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.
MONDO:0100036
obsolete variable-age onset epilepsy syndrome (obsolete MONDO:0100036)
excluded_subClassOf
MONDO:0001516
spinal muscular atrophy
is_a
MONDO:0005395
movement disorder
is_a
MONDO:0100524
ASAH1-related sphingolipidosis
is_a
Jankovic Rivera syndrome
related
Jankovic-Rivera syndrome
exact
SMAPME
related
hereditary myoclonus and progressive distal muscular atrophy
related
hereditary myoclonus-progressive distal muscular atrophy syndrome
exact
myoclonus hereditary progressive distal muscular atrophy
related
spinal muscular atrophy with progressive myoclonic epilepsy
related