Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy (SMAPME)

Alias:

Jankovic-Rivera Syndrome

Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome

Sma-Pme

Smapme

Hereditary Myoclonus-Progressive Distal Muscular Atrophy Syndrome

Hereditary Myoclonus with Progressive Distal Muscular Atrophy

Jankovic Rivera Syndrome

Myoclonus, Hereditary, with Progressive Distal Muscular Atrophy

Atrophy, Muscular, Spinal, with Progressive Myoclonic Epilepsy

Myoclonus Hereditary Progressive Distal Muscular Atrophy

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy, also known as jankovic-rivera syndrome, is related to spinal muscular atrophy and muscular atrophy, and has symptoms including muscular fasciculation, myoclonus and seizures. An important gene associated with Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy is ASAH1 (N-Acylsphingosine Amidohydrolase 1), and among its related pathways/superpathways are Metabolism and Sphingolipid metabolism. Affiliated tissues include spinal cord and brain, and related phenotypes are seizure and myoclonus

Related ID：

MALACARDS：SPN252

OMIM：159950

MESH：C537563