Orpha Number: 2590
The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
| Signs and Symptoms | Approximate number of patients (when available) |
| EMG abnormality | Very frequent (present in 80%-99% of cases) |
| Gait disturbance | Very frequent (present in 80%-99% of cases) |
| Generalized myoclonic |
Very frequent (present in 80%-99% of cases) |
| Neurological speech impairment | Very frequent (present in 80%-99% of cases) |
| Progressive distal muscular atrophy | Very frequent (present in 80%-99% of cases) |
| Frequent (present in 30%-79% of cases) |
|
| Frequent (present in 30%-79% of cases) |
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
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August 31, 2017
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Workshop on Myoclonus Sunday, March 21, 1999 -
Monday, March 22, 1999
Location:
Contact: Dr. Mark Hallett(301) 496-1561
Co-funding Institute(s): National Institute of Neurological Disorders and Stroke
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