Spinal muscular atrophy-progressive myoclonic epilepsy syndrome

Title

Other Names:

SMA-PME; Myoclonus hereditary progressive distal muscular atrophy; Hereditary myoclonus-progressive distal muscular atrophy syndrome; SMA-PME; Myoclonus hereditary progressive distal muscular atrophy; Hereditary myoclonus-progressive distal muscular atrophy syndrome; Jankovic-Rivera syndrome; Spinal muscular atrophy with progressive myoclonic epilepsy See More

Categories:

Congenital and Genetic Diseases; Nervous System Diseases

Summary Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.

Orpha Number: 2590

Definition

Spinal muscular atrophy-progressive myoclonic epilepsy syndrome is characterized by hereditary myoclonus and progressive distal muscular atrophy. Less than 10 cases have been reported. Treatment with clonazepam results in complete and lasting improvement of the myoclonus.

Visit the Orphanet disease page for more resources.

Last updated: 9/1/2006

Symptoms Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
EMG abnormality		0003457
Gait disturbance	Abnormal gait Abnormal walk Impaired gait [ more ]	0001288
Generalized myoclonic seizures		0002123
Neurological speech impairment	Speech disorder Speech impairment Speech impediment [ more ]	0002167
Progressive distal muscular atrophy		0008955
30%-79% of people have these symptoms
Dementia	Dementia, progressive Progressive dementia [ more ]	0000726
EEG abnormality		0002353

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Last updated: 3/1/2020

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Learn More Learn More

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.

In-Depth Information

The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

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