{"Name":"Autosomal recessive distal spinal muscular atrophy 2","DiseaseID__c":"GARD:0010133","id":10133,"encodedName":"autosomal-recessive-distal-spinal-muscular-atrophy-2","IsDeleted":false,"Disease_Name_Full__c":"Autosomal recessive distal spinal muscular atrophy 2","Xref_IDs__c":"763533003; C1854023; C535715; DOID:0111065; MEDGEN:344189; MONDO:0011585; OMIM:605726; ORPHA:139552","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0011585","Disease_Description__c":"A rare, genetic, neuromuscular disease characterized by progressive, symmetrical, moderate to severe, distal muscle weakness and atrophy, without sensory involvement, first affecting the lower limbs (towards the end of the first decade) and then involving (within two years) the upper extremities. Patients typically develop foot drop, pes varus, hammer toes and claw hands. Pyramidal tract signs (such as brisk knee reflexes and positive Babinski sign) with absent ankle reflexes are initially associated but regress as disease stabilizes (~10 years after onset).","GARD_Name__c":"Autosomal recessive distal spinal muscular atrophy 2","GARD_Synonym__c":"autosomal recessive distal spinal muscular atrophy type 2; dhmnj; distal hereditary motor neuropathy jerash type; distal hereditary motor neuropathy, jerash type; dsma2; hereditary motor neuropathy,  jerash type; motor neuropathy, distal, jerash type; neuronopathy, distal hereditary motor, jerash type; neuropathy, distal hereditary motor, autosomal recessive 2; neuropathy, distal hereditary motor, jerash type; spinal muscular atrophy jerash type; spinal muscular atrophy, distal, autosomal recessive, type 2; spinal muscular atrophy, jerash type","Curated_Disease_Description_Source__c":"MONDO:0011585","Curated_Disease_Description__c":"A rare, genetic, neuromuscular disease characterized by progressive, symmetrical, moderate to severe, distal muscle weakness and atrophy, without sensory involvement, first affecting the lower limbs (towards the end of the first decade) and then involving (within two years) the upper extremities. Patients typically develop foot drop, pes varus, hammer toes and claw hands. Pyramidal tract signs (such as brisk knee reflexes and positive Babinski sign) with absent ankle reflexes are initially associated but regress as disease stabilizes (~10 years after onset).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:139552","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011585","ORPHANET_ID__c":"ORPHA:139552","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Neuropatía motora distal hereditaria tipo jerash","Spanish_Description_Source__c":"ORPHA:139552","Spanish_Description__c":"La neuropatía motora distal hereditaria tipo Jerash es una enfermedad neuromuscular genética poco frecuente, caracterizada por debilidad y atrofia muscular progresiva, simétrica, de moderada a grave, sin afectación sensitiva, afectando primero a las extremidades inferiores (hacia el final de la primera década) y posteriormente a las extremidades superiores (en un plazo de 2 años). Típicamente, los afectados suelen experimentar pie caído, pie varo, dedos en martillo y manos en garra. Inicialmente se asocian signos piramidales (p. ej., reflejos patelares vivos, signo de Babinski) y reflejos aquíleos ausentes, que revierten cuando la enfermedad se estabiliza (~ 10 años después del inicio).","Spanish_Disease_Name__c":"neuropatía motora distal hereditaria tipo jerash","Spanish_GARD_Synonym__c":"atrofia muscular espinal distal autosómica recesiva tipo 2; dhmnj","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":"A rare, genetic, neuromuscular disease characterized by progressive, symmetrical, moderate to severe, distal muscle weakness and atrophy, without sensory involvement, first affecting the lower limbs (towards the end of the first decade) and then involving (within two years) the upper extremities. Patients typically develop foot drop, pes varus, hammer toes and claw hands. Pyramidal tract signs (such as brisk knee reflexes and positive Babinski sign) with absent ankle reflexes are initially associated but regress as disease stabilizes (~10 years after onset).","Curated_Disease_Description_Source__c":"MONDO:0011585","GARD_Synonym__c":"autosomal recessive distal spinal muscular atrophy type 2; dhmnj; distal hereditary motor neuropathy jerash type; distal hereditary motor neuropathy, jerash type; dsma2; hereditary motor neuropathy,  jerash type; motor neuropathy, distal, jerash type; neuronopathy, distal hereditary motor, jerash type; neuropathy, distal hereditary motor, autosomal recessive 2; neuropathy, distal hereditary motor, jerash type; spinal muscular atrophy jerash type; spinal muscular atrophy, distal, autosomal recessive, type 2; spinal muscular atrophy, jerash type","Name":"Autosomal recessive distal spinal muscular atrophy 2","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Muscular Dystrophy Canada","Website__c":"https://muscle.ca/"}],"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":"Peripheral Neuropathy","Tag_Category__c":"Account","curated_tag_name":"Peripheral neuropathy"},{"Tag_Name__c":"Neuromuscular medicine","Tag_Category__c":"Specialist","curated_tag_name":"Neuromuscular medicine"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:139552"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1854023"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010133","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/139552","Source__c":"C1854023; MONDO:0011585; ORPHA:139552","Xref__c":"ORPHA:139552"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535715","Source__c":"MONDO:0011585","Xref__c":"C535715"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1854023","Source__c":"C1854023","Xref__c":"C1854023"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111065","Source__c":"MONDO:0011585","Xref__c":"DOID:0111065"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=344189","Source__c":"C1854023","Xref__c":"MEDGEN:344189"},{"URL__c":"https://www.omim.org/entry/605726","Source__c":"C1854023; MONDO:0011585; ORPHA:139552","Xref__c":"OMIM:605726"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=763533003","Source__c":"C1854023; MONDO:0011585","Xref__c":"763533003"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011585","Source__c":"GARD:0010133","Xref__c":"MONDO:0011585"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SIGMAR1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:605726","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced strength of the musculature of the distal extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002460","HPO_Synonym__c":"Distal limb muscle weakness; Distal limb weakness; Distal muscular weakness; Distal paresis; Muscle weakness, distal; Muscle weakness, distal limbs, due to neuronopathy; Weakness of distal muscles; Weakness of outermost muscles","HPO_Name__c":"Distal muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:605726","Feature__r":{"HPO_Description__c":"Muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007269","HPO_Synonym__c":"Spinal muscle degeneration; Spinal muscle wasting","HPO_Name__c":"Spinal muscular atrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:605726","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:605726","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the hand characterized by metacarpophalangeal (MCP) hyperextension and proximal interphalangeal (PIP) and distal interphalangeal (DIP) flexion. The position of the affected hand is said to resemble a claw.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0034337","HPO_Name__c":"Claw hand deformity","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:605726","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced level of the compound muscle action potential (CMAP), which is recorded following electrical stimulation of a nerve from surface electrodes overlying a muscle supplied by that nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0033383","HPO_Synonym__c":"Decreased CMAP amplitude","HPO_Name__c":"Decreased compound muscle action potential amplitude","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_NCV"}},{"Provided_By__c":"OMIM:605726","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of decreased nerve conduction velocity that affects the motor neuron.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003431","HPO_Synonym__c":"Decreased motor NCV; Decreased motor nerve conduction velocities; Reduced motor nerve conduction velocity","HPO_Name__c":"Decreased motor nerve conduction velocity","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_NCV"}},{"Provided_By__c":"OMIM:605726","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence of the Achilles reflex (also known as the ankle jerk reflex), which can normally be elicited by tapping the tendon is tapped while the foot is dorsiflexed.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003438","HPO_Synonym__c":"Absent ankle reflexes","HPO_Name__c":"Absent Achilles reflex","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:605726","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007083","HPO_Synonym__c":"Hyperreflexia in knees; Overactive knee reflex","HPO_Name__c":"Hyperactive patellar reflex","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:605726","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:605726","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":"OMIM:605726","Feature__r":{"HPO_Description__c":"An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001761","HPO_Synonym__c":"Cavus foot; High-arched foot","HPO_Name__c":"Pes cavus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:605726","Feature__r":{"HPO_Description__c":"Hyperextension of the metatarsal-phalangeal joint with hyperflexion of the proximal interphalangeal (PIP) joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001765","HPO_Synonym__c":"Hammer toe; Hammertoe; Hammertoes","HPO_Name__c":"Hammertoe","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"Account":["Peripheral Neuropathy"]},"synonyms":["autosomal recessive distal spinal muscular atrophy type 2"," dhmnj"," distal hereditary motor neuropathy jerash type"," distal hereditary motor neuropathy, jerash type"," dsma2"," hereditary motor neuropathy,  jerash type"," motor neuropathy, distal, jerash type"," neuronopathy, distal hereditary motor, jerash type"," neuropathy, distal hereditary motor, autosomal recessive 2"," neuropathy, distal hereditary motor, jerash type"," spinal muscular atrophy jerash type"," spinal muscular atrophy, distal, autosomal recessive, type 2"," spinal muscular atrophy, jerash type"]}