spinal muscular atrophy-progressive myoclonic epilepsy syndrome
Findings
No curated finding names spinal muscular atrophy-progressive myoclonic epilepsy syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0008045), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset · Progressive · Childhood onset
HPO, annotations 2026-09-02
Features
38 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Gait disturbanceHPOHP:0001288
- 6 of 6 reported patients
- Frequent (30% to 79% of cases)
- Proximal muscle weaknessHPOHP:0003701
- 6 of 6 reported patients
- SeizureHPOHP:0001250
- Obligate (100% of cases)
- Skeletal muscle atrophyHPOHP:0003202
- 6 of 6 reported patients
- Abnormal circulating enzyme concentration or activityHPOHP:0012379
- Very frequent (80% to 99% of cases)
- Abnormal lower motor neuron morphology
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ASAH1HGNC:735
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
2 names
Resolves to: spinal muscular atrophy-progressive myoclonic epilepsy syndrome
- Also called
- hereditary myoclonus-progressive distal muscular atrophy syndromeJankovic-Rivera syndrome