{"Name":"Amyotrophic lateral sclerosis","DiseaseID__c":"GARD:0005786","id":5786,"encodedName":"amyotrophic-lateral-sclerosis","IsDeleted":false,"Disease_Name_Full__c":"Amyotrophic lateral sclerosis","Xref_IDs__c":"423022100; 86044005; C0002736; C34373; D000690; DOID:332; G12.21; HP:0007354; MEDGEN:274; MONDO:0004976; NBK1450; ORPHA:803","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":1,"No_of_HHS_records__c":5,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":7,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0004976","Disease_Description__c":"A neurodegenerative disease characterized by progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord.","GARD_Name__c":"Amyotrophic lateral sclerosis","GARD_Synonym__c":"als; als - amyotrophic lateral sclerosis; bulbar motor neuron disease; charcot disease; lou gehrig disease; lou gehrig's disease; motor neuron disease, bulbar","Curated_Disease_Description_Source__c":"GARD:0005786","Curated_Disease_Description__c":"Amyotrophic lateral sclerosis (ALS) is a progressive disease that affects motor neurons, which are specialized nerve cells that control muscle movement. These nerve cells are found in the spinal cord and the brain. In ALS, motor neurons die (atrophy) over time, leading to muscle weakness, a loss of muscle mass, and an inability to control movement. There are many different types of ALS; these types are distinguished by their signs and symptoms and their genetic cause or lack of clear genetic association. Most people with ALS have a form of the condition that is described as sporadic, which means it occurs in people with no apparent history of the disorder in their family. People with sporadic ALS usually first develop features of the condition in their late fifties or early sixties. A small proportion of people with ALS, estimated at 5 to 10 percent, have a family history of ALS or a related condition called frontotemporal dementia (FTD), which is a progressive brain disorder that affects personality, behavior, and language. The signs and symptoms of familial ALS typically first appear in one's late forties or early fifties. Rarely, people with familial ALS develop symptoms in childhood or their teenage years. These individuals have a rare form of the disorder known as juvenile ALS. The first signs and symptoms of ALS may be so subtle that they are overlooked. The earliest symptoms include muscle twitching, cramping, stiffness, or weakness. Affected individuals may develop slurred speech (dysarthria) and, later, difficulty chewing or swallowing (dysphagia). Many people with ALS experience malnutrition because of reduced food intake due to dysphagia and an increase in their body's energy demands (metabolism) due to prolonged illness. Muscles become weaker as the disease progresses, and arms and legs begin to look thinner as muscle tissue atrophies. Individuals with ALS eventually lose muscle strength and the ability to walk. Affected individuals eventually become wheelchair-dependent and increasingly require help with personal care and other activities of daily living. Over time, muscle weakness causes affected individuals to lose the use of their hands and arms. Breathing becomes difficult because the muscles of the respiratory system weaken. Most people with ALS die from respiratory failure within 2 to 10 years after the signs and symptoms of ALS first appear; however, disease progression varies widely among affected individuals. Approximately 20 percent of individuals with ALS also develop FTD. Changes in personality and behavior may make it difficult for affected individuals to interact with others in a socially appropriate manner. Communication skills worsen as the disease progresses. It is unclear how the development of ALS and FTD are related. Individuals who develop both conditions are diagnosed as having ALS-FTD. A rare form of ALS that often runs in families is known as ALS-parkinsonism-dementia complex (ALS-PDC). This disorder is characterized by the signs and symptoms of ALS, in addition to a pattern of movement abnormalities known as parkinsonism, and a progressive loss of intellectual function (dementia). Signs of parkinsonism include unusually slow movements (bradykinesia), stiffness, and tremors. Affected members of the same family can have different combinations of signs and symptoms.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:803","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0004976","ORPHANET_ID__c":"ORPHA:803","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Esclerosis lateral amiotrófica","Spanish_Description_Source__c":"ORPHA:803","Spanish_Description__c":"Es una enfermedad neurodegenerativa caracterizada por parálisis muscular progresiva a consecuencia de una degeneración de las neuronas motoras en la corteza motora primaria, tracto corticoespinal, tronco encefálico y médula espinal.","Spanish_Disease_Name__c":"esclerosis lateral amiotrófica","Spanish_GARD_Synonym__c":"ela; enfermedad de charcot; enfermedad de lou-gehrig","Category_Linearization__c":"ORPHA:98006","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Amyotrophic lateral sclerosis (ALS) is a progressive disease that affects motor neurons, which are specialized nerve cells that control muscle movement. These nerve cells are found in the spinal cord and the brain. In ALS, motor neurons die (atrophy) over time, leading to muscle weakness, a loss of muscle mass, and an inability to control movement. There are many different types of ALS; these types are distinguished by their signs and symptoms and their genetic cause or lack of clear genetic association. Most people with ALS have a form of the condition that is described as sporadic, which means it occurs in people with no apparent history of the disorder in their family. People with sporadic ALS usually first develop features of the condition in their late fifties or early sixties. A small proportion of people with ALS, estimated at 5 to 10 percent, have a family history of ALS or a related condition called frontotemporal dementia (FTD), which is a progressive brain disorder that affects personality, behavior, and language. The signs and symptoms of familial ALS typically first appear in one's late forties or early fifties. Rarely, people with familial ALS develop symptoms in childhood or their teenage years. These individuals have a rare form of the disorder known as juvenile ALS. The first signs and symptoms of ALS may be so subtle that they are overlooked. The earliest symptoms include muscle twitching, cramping, stiffness, or weakness. Affected individuals may develop slurred speech (dysarthria) and, later, difficulty chewing or swallowing (dysphagia). Many people with ALS experience malnutrition because of reduced food intake due to dysphagia and an increase in their body's energy demands (metabolism) due to prolonged illness. Muscles become weaker as the disease progresses, and arms and legs begin to look thinner as muscle tissue atrophies. Individuals with ALS eventually lose muscle strength and the ability to walk. Affected individuals eventually become wheelchair-dependent and increasingly require help with personal care and other activities of daily living. Over time, muscle weakness causes affected individuals to lose the use of their hands and arms. Breathing becomes difficult because the muscles of the respiratory system weaken. Most people with ALS die from respiratory failure within 2 to 10 years after the signs and symptoms of ALS first appear; however, disease progression varies widely among affected individuals. Approximately 20 percent of individuals with ALS also develop FTD. Changes in personality and behavior may make it difficult for affected individuals to interact with others in a socially appropriate manner. Communication skills worsen as the disease progresses. It is unclear how the development of ALS and FTD are related. Individuals who develop both conditions are diagnosed as having ALS-FTD. A rare form of ALS that often runs in families is known as ALS-parkinsonism-dementia complex (ALS-PDC). This disorder is characterized by the signs and symptoms of ALS, in addition to a pattern of movement abnormalities known as parkinsonism, and a progressive loss of intellectual function (dementia). Signs of parkinsonism include unusually slow movements (bradykinesia), stiffness, and tremors. Affected members of the same family can have different combinations of signs and symptoms.","Curated_Disease_Description_Source__c":"GARD:0005786","GARD_Synonym__c":"als; als - amyotrophic lateral sclerosis; bulbar motor neuron disease; charcot disease; lou gehrig disease; lou gehrig's disease; motor neuron disease, bulbar","Name":"Amyotrophic lateral sclerosis","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Muscular Dystrophy Association","Website__c":"https://www.mda.org"},{"Account_Name__c":"Motor Neurone Disease Association","Website__c":"https://www.mndassociation.org/"},{"Account_Name__c":"FYADEMAC","Website__c":"https://www.fyadenmac.org/index.html"},{"Account_Name__c":"The Association for Frontotemporal Degeneration","Website__c":"https://www.theaftd.org/"},{"Account_Name__c":"Cure VCP Disease, Inc.","Website__c":"https://www.curevcp.org/"},{"Account_Name__c":"Spastic Paraplegia Foundation","Website__c":"https://sp-foundation.org/"},{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"},{"Account_Name__c":"Asociación Española de ELA","Website__c":"https://adelaweb.org/"},{"Account_Name__c":"Federación Española de Enfermedades Neuromusculares","Website__c":"https://www.asem-esp.org/"},{"Account_Name__c":"Asociación ELA Argentina (ALS Association of Argentina)","Website__c":"http://asociacionela.org.ar/es/"},{"Account_Name__c":"Asociación Colombiana de Esclerosis Lateral Amiotrófica","Website__c":"https://www.acelaweb.org/"},{"Account_Name__c":"ALS Canada","Website__c":"https://www.als.ca"},{"Account_Name__c":"Les Turner ALS Foundation","Website__c":"https://lesturnerals.org/"},{"Account_Name__c":"Muscular Dystrophy Association - ALS Division","Website__c":"https://www.mda.org/disease/amyotrophic-lateral-sclerosis"},{"Account_Name__c":"ALS Association","Website__c":"https://www.als.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Neuromuscular medicine","Tag_Category__c":"Specialist","curated_tag_name":"Neuromuscular medicine"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:803"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0002736"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0005786","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1450","Source__c":"Gene Review","Xref__c":"NBK1450"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A332","Source__c":"MONDO:0004976","Xref__c":"DOID:332"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0002736","Source__c":"C0002736","Xref__c":"C0002736"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C000690","Source__c":"C0002736; MONDO:0004976","Xref__c":"D000690"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=274","Source__c":"C0002736","Xref__c":"MEDGEN:274"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/G12.21","Source__c":"MONDO:0004976","Xref__c":"G12.21"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C34373","Source__c":"C0002736; MONDO:0004976","Xref__c":"C34373"},{"URL__c":"https://www.orpha.net/en/disease/detail/803","Source__c":"C0002736; MONDO:0004976; ORPHA:803","Xref__c":"ORPHA:803"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=86044005","Source__c":"C0002736; MONDO:0004976","Xref__c":"86044005"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0004976","Source__c":"GARD:0005786","Xref__c":"MONDO:0004976"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0007354","Source__c":"C0002736","Xref__c":"HP:0007354"},{"URL__c":"https://medlineplus.gov/genetics/condition/amyotrophic-lateral-sclerosis","Source__c":"GARD:0005786","Xref__c":"https://medlineplus.gov/genetics/condition/amyotrophic-lateral-sclerosis"},{"URL__c":"https://secure.ssa.gov/apps10/poms.nsf/lnx/0423022100","Xref__c":"423022100"},{"URL__c":"https://www.ninds.nih.gov/health-information/disorders/amyotrophic-lateral-sclerosis-als"},{"URL__c":"https://www.alshf.org/end-the-legacy"},{"URL__c":"https://medlineplus.gov/amyotrophiclateralsclerosis.html"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"FIG4","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"PFN1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"GLE1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"ERBB4","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"OPTN","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"DAO","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"FUS","GHR_URL__c":"https://medlineplus.gov/genetics/gene/fus","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"VAPB","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"MATR3","GHR_URL__c":"https://medlineplus.gov/genetics/gene/matr3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"PON3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"CCNF","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"SOD1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/sod1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"SQSTM1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/sqstm1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"ANXA11","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"VCP","GHR_URL__c":"https://medlineplus.gov/genetics/gene/vcp","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"HNRNPA1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"UBQLN2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"CHMP2B","GHR_URL__c":"https://medlineplus.gov/genetics/gene/chmp2b","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"PON1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"C9orf72","GHR_URL__c":"https://medlineplus.gov/genetics/gene/c9orf72","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"CHCHD10","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"TARDBP","GHR_URL__c":"https://medlineplus.gov/genetics/gene/tardbp","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"CFAP410","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"ANG","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"PON2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant","Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:803","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of skeletal muscular atrophy (which is also known as amyotrophy).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003202","HPO_Synonym__c":"Amyotrophy; Amyotrophy involving the extremities; Muscle atrophy; Muscle atrophy, neurogenic; Muscle degeneration; Muscle hypotrophy; Muscle wasting; Muscular atrophy; Neurogenic muscle atrophy; Neurogenic muscle atrophy, especially in the lower limbs; Neurogenic muscular atrophy","HPO_Name__c":"Skeletal muscle atrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:803","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of weakness of the bulbar muscles (muscles of the mouth and throat responsible for speech and swallowing) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030192","HPO_Name__c":"Fatigable weakness of bulbar muscles","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:803","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Sudden and involuntary contractions of one or more muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003394","HPO_Synonym__c":"Muscle cramps; Muscle spasms","HPO_Name__c":"Muscle spasm","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:803","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003324","HPO_Synonym__c":"Generalized weakness; Muscle weakness, diffuse; Muscle weakness, generalized","HPO_Name__c":"Generalized muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:803","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Weakness of the muscles of the legs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007340","HPO_Synonym__c":"Leg weakness; Lower extremity weakness; Lower limb muscle weakness; Lower limb weakness; Muscle weakness in lower limbs","HPO_Name__c":"Lower limb muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:803","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000739","HPO_Synonym__c":"Anxiety; Anxiousness; Excessive, persistent worry and fear","HPO_Name__c":"Anxiety","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:803","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009027","HPO_Synonym__c":"Foot drop; Foot extensor weakness; Footdrop; Inability to heel walk; Inability to walk on heels","HPO_Name__c":"Foot dorsiflexor weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:803","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or disproportionate to events and circumstances.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000712","HPO_Name__c":"Emotional lability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:803","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A dementia associated with degeneration of the frontotemporal lobe and clinically associated with personality and behavioral changes such as disinhibition, apathy, and lack of insight. The hallmark feature of frontotemporal dementia is the presentation with focal syndromes such as progressive language dysfunction, or aphasia, or behavioral changes characteristic of frontal lobe disorders.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002145","HPO_Name__c":"Frontotemporal dementia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:803","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A sensation of breathlessness in the recumbent position, relieved by sitting or standing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012764","HPO_Name__c":"Orthopnea","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:803","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal pattern in the quality, quantity, or characteristics of sleep.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002360","HPO_Synonym__c":"Difficulty sleeping; Sleep abnormality; Sleep disturbances; Sleep dysfunction; Sleep-wake disturbance; Trouble sleeping","HPO_Name__c":"Sleep disturbance","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:803","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003487","HPO_Synonym__c":"Extensor plantar reflexes; Extensor plantar response; Extensor plantar responses; Positive Babinski sign","HPO_Name__c":"Babinski sign","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:803","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012531","HPO_Synonym__c":"Pain","HPO_Name__c":"Pain","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:803","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002878","HPO_Synonym__c":"Respiratory failure","HPO_Name__c":"Respiratory failure","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:803","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100543","HPO_Synonym__c":"Abnormality of cognition; Cognitive abnormality; Cognitive defects; Cognitive deficits; Cognitive impairment; Intellectual impairment","HPO_Name__c":"Cognitive impairment","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:803","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Habitual flow of saliva out of the mouth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002307","HPO_Synonym__c":"Dribbling; Drooling; Sialorrhea","HPO_Name__c":"Drooling","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:803","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002380","HPO_Synonym__c":"Fasciculation; Muscle fasciculation; Muscle twitch","HPO_Name__c":"Fasciculations","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:803","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Dryness of the mouth due to salivary gland dysfunction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000217","HPO_Synonym__c":"Dry mouth; Dry mouth syndrome; Reduced salivation","HPO_Name__c":"Xerostomia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:803","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A Hoffmann test is performed by flicking the fingernail of the long finger, from dorsal to volar, on each hand while the hand was supported by the examiner's hand. The test was done with the neck in the neutral position and then with the neck maximally forward flexed. Any flexion of the ipsilateral thumb and/or index finger was interpreted as a positive test.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031993","HPO_Synonym__c":"Hoffmann's sign","HPO_Name__c":"Hoffmann sign","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:803","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A spasm (involuntary contraction) of the vocal cords that can make it difficult to speak or breathe.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025425","HPO_Name__c":"Laryngospasm","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:803","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Language impairment is a deficit in comprehension or production of language that includes reduced vocabulary, limited sentence structure, or impairments in written or spoken communication. Language abilities are substantially and quantifiably below age expectations.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002463","HPO_Synonym__c":"Language disorder","HPO_Name__c":"Language impairment","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:803","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004326","HPO_Synonym__c":"Wasting syndrome","HPO_Name__c":"Cachexia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:803","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduction of total body weight.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001824","HPO_Synonym__c":"Loss of weight","HPO_Name__c":"Weight loss","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:803","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001260","HPO_Synonym__c":"Difficulty articulating speech; Dysarthric speech","HPO_Name__c":"Dysarthria","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:803","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001347","HPO_Synonym__c":"Increased deep tendon reflexes; Increased reflexes","HPO_Name__c":"Hyperreflexia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:803","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Wasting involving the motor neuron.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007373","HPO_Synonym__c":"Motor neuron degeneration","HPO_Name__c":"Motor neuron atrophy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:803","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Weakness of the muscles of the arms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003484","HPO_Synonym__c":"Decreased arm strength; Weak arm","HPO_Name__c":"Upper limb muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:803","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Muscular atrophy affecting muscles in the distal portions of the extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003693","HPO_Synonym__c":"Amyotrophy of distal limb muscles; Distal amyotrophy, especially of the hands and feet; Distal limb muscle atrophy; Distal muscle atrophy; Distal muscle atrophy, upper and lower limbs; Distal muscle degeneration; Distal muscle wasting; Distal muscular atrophy; Muscle atrophy, distal","HPO_Name__c":"Distal amyotrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:803","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007354","HPO_Name__c":"Amyotrophic lateral sclerosis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:803","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001257","HPO_Synonym__c":"Involuntary muscle stiffness, contraction, or spasm; Muscle spasticity; Muscular spasticity","HPO_Name__c":"Spasticity","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:803","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any anomaly measure by pulmonary function testing, which includes spirometry, measures of diffusing capacity, and plethysmography.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030878","HPO_Synonym__c":"Abnormal pulmonary function test","HPO_Name__c":"Abnormality on pulmonary function testing","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Procedure_PFT"}},{"Provided_By__c":"ORPHA:803","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of weakness of the muscles involved in breathing (respiration) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030196","HPO_Name__c":"Fatigable weakness of respiratory muscles","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:803","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Difficulty in swallowing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002015","HPO_Synonym__c":"Difficulty swallowing; Poor swallowing; Swallowing difficulties; Swallowing difficulty","HPO_Name__c":"Dysphagia","Feature_System__c":"Nervous System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:803","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Progressive loss of neural cells and tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002180","HPO_Synonym__c":"Ongoing loss of nerve cells","HPO_Name__c":"Neurodegeneration","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:803","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002094","HPO_Synonym__c":"Abnormal breathing; Breathing difficulty; Difficult to breathe; Difficulty breathing; Shortness of breath; Trouble breathing","HPO_Name__c":"Dyspnea","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:803","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000716","HPO_Synonym__c":"Depression; Depressive episode; Depressivity","HPO_Name__c":"Depression","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:803","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased intensity of muscle tendon reflexes in jaw.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0033683","HPO_Synonym__c":"Brisk jaw jerk","HPO_Name__c":"Jaw hyperreflexia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:803","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Fasciculations or fibrillation affecting the tongue muscle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001308","HPO_Synonym__c":"Lingual fasciculations; Lingual fibrillations; Lingual twitching; Tongue fasciculation; Tongue fasciculations/fibrillations; Tongue twitching; Twitching of the tongue","HPO_Name__c":"Tongue fasciculations","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:803","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Progressive muscular atrophy affecting muscles in the distal portions of the extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008955","HPO_Name__c":"Progressive distal muscular atrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:803","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A subjective feeling of tiredness characterized by a lack of energy and motivation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012378","HPO_Synonym__c":"Fatigue; Tired; Tiredness","HPO_Name__c":"Fatigue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:803","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Atypical behavior is an abnormality in a person's actions that can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000708","HPO_Synonym__c":"Behavioral abnormality; Behavioral changes; Behavioral disorders; Behavioral disturbances; Behavioral problems; Behavioral symptoms; Behavioral/psychiatric abnormalities; Behavioural symptoms; Behavioural/Psychiatric abnormality; Psychiatric disorders; Psychiatric disturbances","HPO_Name__c":"Atypical behavior","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:803","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003470","HPO_Synonym__c":"Inability to move; Paralysis","HPO_Name__c":"Paralysis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:803","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Difficulty in speaking due to a physical disorder of the mouth, tongue, throat, or vocal cords. Associated with a known physical or neurological cause.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001618","HPO_Synonym__c":"Inability to produce voice sounds; Voice change","HPO_Name__c":"Dysphonia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:803","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Wasting of the tongue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012473","HPO_Synonym__c":"Atrophy of the tongue; Lingual atrophy; Lingual wasting; Wasting of the tongue","HPO_Name__c":"Tongue atrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:803","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003376","HPO_Synonym__c":"High stepping","HPO_Name__c":"Steppage gait","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:803","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of weakness of the muscles involved in swallowing that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030195","HPO_Name__c":"Fatigable weakness of swallowing muscles","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:803","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Partial loss of the ability to move the lower limbs accompanied by spasticity of the lower limbs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002313","HPO_Name__c":"Spastic paraparesis","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neuromuscular medicine"]},"synonyms":["als"," als - amyotrophic lateral sclerosis"," bulbar motor neuron disease"," charcot disease"," lou gehrig disease"," lou gehrig's disease"," motor neuron disease, bulbar"],"spanishId":12374,"spanishName":"esclerosis-lateral-amiotrofica"}