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  3. Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
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Spinal muscular atrophy-progressive myoclonic epilepsy syndrome


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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


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

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


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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.

Showing of 25 |
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
Showing of 25 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 1/1/2021
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Learn More Learn More


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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.

GARD Answers GARD Answers


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Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.
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