Spinal muscular atrophy-progressive myoclonic epilepsy syndrome

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.

What is Spinal muscular atrophy-progressive myoclonic epilepsy syndrome?

Spinal muscular atrophy-progressive myoclonic epilepsy syndrome is a medical condition. A condition is a disease, disorder, or abnormal state that affects the body or mind. This page provides educational information only and is not a diagnosis.

If you think you may have Spinal muscular atrophy-progressive myoclonic epilepsy syndrome, speak with a qualified healthcare provider for evaluation and guidance.

Symptoms that may be associated with Spinal muscular atrophy-progressive myoclonic epilepsy syndrome

Atonic seizureDysphagiaFacial palsyGeneralised tonic-clonic seizure without focal onsetGeneralized myoclonic seizureGeneralized-onset seizureLower limb muscle weaknessProximal muscle weaknessRespiratory insufficiency due to muscle weaknessSeizureSensorineural hearing impairmentTongue fasciculations

When to seek medical care

Seek medical advice if you have symptoms that are severe, persistent, or affecting your daily life. Emergency care is needed for symptoms like chest pain, difficulty breathing, confusion, or severe weakness.