Spinal muscular atrophy-progressive myoclonic epilepsy syndrome

Title

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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
Abnormal enzyme/coenzyme activity		0012379
Abnormal lower motor neuron morphology		0002366
Lower limb muscle weakness	Lower extremity weakness Lower limb weakness Muscle weakness in lower limbs [ more ]	0007340
30%-79% of people have these symptoms
Atonic seizure		0010819
Behavioral abnormality	Behavioral changes Behavioral disorders Behavioral disturbances Behavioral problems Behavioral/psychiatric abnormalities Behavioural/Psychiatric abnormality Psychiatric disorders Psychiatric disturbances [ more ]	0000708
Clumsiness		0002312
Difficulty walking	Difficulty in walking	0002355
Frequent falls		0002359
Generalized myoclonic seizure		0002123
Recurrent aspiration pneumonia		0002100
Respiratory insufficiency due to muscle weakness	Decreased lung function due to weak breathing muscles	0002747
Tremor		0001337
Typical absence seizure		0011147
5%-29% of people have these symptoms
Bilateral tonic-clonic seizure with generalized onset		0025190
Eyelid myoclonus		0025097
High-frequency sensorineural hearing impairment		0001757
Inability to walk		0002540
Limb myoclonus		0045084
Mental deterioration	Cognitive decline Cognitive decline, progressive Intellectual deterioration Progressive cognitive decline [ more ]	0001268
Myoclonic status epilepticus		0032667
Respiratory failure		0002878
Scoliosis		0002650
Waddling gait	'Waddling' gait Waddling walk [ more ]	0002515
1%-4% of people have these symptoms
Dysphagia	Poor swallowing Swallowing difficulties Swallowing difficulty [ more ]	0002015
Intellectual disability	Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ]	0001249

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Last updated: 1/1/2021

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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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