Conditions / Genetic
spinal muscular atrophy with progressive myoclonic epilepsy
info · Genetic
A motor neuron disease characterized by severe and progressive myoclonic epilepsy and lower-motor-neuron disease that has_material_basis_in homozygous or compound heterozygous mutation in the ASAH1 gene on chromosome 8p22.
Signs and symptoms
- Proximal muscle weakness
- Skeletal muscle atrophy
- Gait disturbance
- Facial palsy
- Generalized myoclonic seizure
- Gowers sign
- Tongue fasciculations
- Spinal muscular atrophy
- Frequent falls
- Progressive distal muscular atrophy
Also known as: Jankovic-Rivera syndrome; SMA-PME; SMAPME; hereditary myoclonus-progressive distal muscular atrophy syndrome