{"Name":"Monomelic amyotrophy","DiseaseID__c":"GARD:0009697","id":9697,"encodedName":"monomelic-amyotrophy","IsDeleted":false,"Disease_Name_Full__c":"Monomelic amyotrophy","Xref_IDs__c":"C1865384; C538253; MEDGEN:356265; MONDO:0011224; OMIM:602440; ORPHA:65684","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0011224","Disease_Description__c":"Monomelic amyotrophy (MA) is a rare benign lower motor neuron disorder characterized by muscular weakness and wasting in the distal upper extremities during adolescence followed by a spontaneous halt in progression and a stabilization of symptoms.","GARD_Name__c":"Monomelic amyotrophy","GARD_Synonym__c":"benign focal amyotrophy; hirayama disease; jmadue; juvenile muscular atrophy of distal upper extremity; juvenile muscular atrophy of the distal upper limb","Curated_Disease_Description_Source__c":"GARD:0009697","Curated_Disease_Description__c":"Monomelic amyotrophy (MMA) is a rare disease that causes muscle weakness in the upper extremities. MMA affects the lower motor neurons. Lower motor neurons are cells that help communicate information from the brain to the muscles that are involved in movement (skeletal muscles). Specifically, Monomelic amyotrophy causes weakness and loss of muscle mass in the arms and fingers. The disease is most common in Asia, especially in Japan and India. Males are more likely to develop the disease than females. The exact cause of Monomelic amyotrophy is unknown. Monomelic amyotrophy can sometimes run in families, but it is not thought to be caused by a specific genetic change. Diagnosis of the disease is based on imaging studies and electromyography (EMG) consistent with the disease.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Teenager and as an Adult","SourceID__c":"ORPHA:65684","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0011224","ORPHANET_ID__c":"ORPHA:65684","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Atrofia monomélica","Spanish_Description_Source__c":"ORPHA:65684","Spanish_Description__c":"La amiotrofia monomélica (AM) es un raro trastorno benigno de la neurona motora inferior que se caracteriza por debilidad y atrofia muscular en la parte distal de las extremidades superiores durante la adolescencia, seguido de una detención espontánea de su progresión y una estabilización de los síntomas.","Spanish_Disease_Name__c":"atrofia monomélica","Spanish_GARD_Synonym__c":"amiotrofia focal benigna; atrofia muscular juvenil de las extremidades superiores distales; enfermedad de hirayama; jmadue","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":"Monomelic amyotrophy (MMA) is a rare disease that causes muscle weakness in the upper extremities. MMA affects the lower motor neurons. Lower motor neurons are cells that help communicate information from the brain to the muscles that are involved in movement (skeletal muscles). Specifically, Monomelic amyotrophy causes weakness and loss of muscle mass in the arms and fingers. The disease is most common in Asia, especially in Japan and India. Males are more likely to develop the disease than females. The exact cause of Monomelic amyotrophy is unknown. Monomelic amyotrophy can sometimes run in families, but it is not thought to be caused by a specific genetic change. Diagnosis of the disease is based on imaging studies and electromyography (EMG) consistent with the disease.","Curated_Disease_Description_Source__c":"GARD:0009697","GARD_Synonym__c":"benign focal amyotrophy; hirayama disease; jmadue; juvenile muscular atrophy of distal upper extremity; juvenile muscular atrophy of the distal upper limb","Name":"Monomelic amyotrophy","estimateUsa":""}],"GARD_Disease_Tag__c":[{"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"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:65684"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:65684"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009697","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=356265","Source__c":"C1865384","Xref__c":"MEDGEN:356265"},{"URL__c":"https://www.orpha.net/en/disease/detail/65684","Source__c":"C1865384; MONDO:0011224; ORPHA:65684","Xref__c":"ORPHA:65684"},{"URL__c":"https://www.omim.org/entry/602440","Source__c":"C1865384; MONDO:0011224; ORPHA:65684","Xref__c":"OMIM:602440"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1865384","Source__c":"C1865384","Xref__c":"C1865384"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C538253","Source__c":"MONDO:0011224","Xref__c":"C538253"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011224","Source__c":"GARD:0009697","Xref__c":"MONDO:0011224"},{"URL__c":"https://www.ninds.nih.gov/health-information/disorders/monomelic-amyotrophy"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:65684","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced strength of muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001324","HPO_Synonym__c":"Muscle weakness; Muscular weakness","HPO_Name__c":"Muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:65684","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the immune system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002715","HPO_Synonym__c":"Abnormality of the immune system; Immunological abnormality","HPO_Name__c":"Abnormality of the immune system","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:65684","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the arm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002817","HPO_Synonym__c":"Abnormality of the arm; Abnormality of the upper limb","HPO_Name__c":"Abnormality of the upper limb","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:65684","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal results of investigations using electromyography (EMG).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003457","HPO_Synonym__c":"Abnormal electromyography finding; Abnormal EMG; Electromyogram abnormal; EMG abnormalities","HPO_Name__c":"EMG abnormality","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Procedure_EMG"}},{"Provided_By__c":"ORPHA:65684","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Muscular atrophy of distal arm muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007149","HPO_Synonym__c":"Distal upper limb muscle atrophy","HPO_Name__c":"Distal upper limb amyotrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:65684","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002398","HPO_Synonym__c":"Anterior horn cell loss; Degeneration of alpha-motor neurons in anterior horn cells of the spinal cord; Degeneration of spinal cord anterior horn cells; Loss of spinal cord anterior horn cells; Progressive loss of anterior horn cells; Spinal cord anterior horn cell degeneration","HPO_Name__c":"Degeneration of anterior horn cells","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:65684","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100022","HPO_Synonym__c":"Abnormality of movement; Movement disorder; Unusual movement","HPO_Name__c":"Abnormality of movement","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:65684","HPO_Frequency__c":"Occasional (5-29%)","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:65684","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the conduction of electrical impulses by peripheral (motor or sensory) nerves. This finding is elicited by a nerve conduction study (NCS).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003134","HPO_Synonym__c":"Sensory and motor nerve conduction abnormalities","HPO_Name__c":"Abnormality of peripheral nerve conduction","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_NCV"}},{"Provided_By__c":"ORPHA:65684","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An unintentional, oscillating to-and-fro muscle movement about a joint axis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001337","HPO_Synonym__c":"Tremor; Tremors","HPO_Name__c":"Tremor","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Disease Category":["Neurology"],"Specialist":["Neurology","Neuromuscular medicine","Pediatrics"]},"synonyms":["benign focal amyotrophy"," hirayama disease"," jmadue"," juvenile muscular atrophy of distal upper extremity"," juvenile muscular atrophy of the distal upper limb"]}