Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Neurogenic muscle atrophy, especially in the lower limbs
Always present (100%)HP:0003202
Proximal neurogenic muscle weakness
Always present (100%)HP:0003701
Seizures
Always present (100%)HP:0001250
Abnormal circulating enzyme concentration or activity
Very frequent (80-99%)HP:0012379
Functional motor deficit
Very frequent (80-99%)HP:0004302
Involuntary jerking movements
Very frequent (80-99%)HP:0001336
Lower limb muscle weakness
Very frequent (80-99%)HP:0007340
Lower motor neuron manifestations
Very frequent (80-99%)HP:0002366
Behavioral changes
Frequent (30-79%)HP:0000708
Clumsiness
Frequent (30-79%)HP:0002312
Facial palsy
Frequent (30-79%)HP:0010628
Frequent falls
Frequent (30-79%)HP:0002359
Gait disturbance
Frequent (30-79%)HP:0001288
Generalized myoclonic seizure
Frequent (30-79%)HP:0002123
Recurrent aspiration pneumonia
Frequent (30-79%)HP:0002100
respiratory infections, recurrent
Frequent (30-79%)HP:0002205
Sudden loss of muscle tone
Frequent (30-79%)HP:0010819
Tongue fasciculations/fibrillations
Frequent (30-79%)HP:0001308
Tremor
Frequent (30-79%)HP:0001337
Typical absence seizures
Frequent (30-79%)HP:0011147
Bilateral tonic-clonic seizure with generalized onset
Occasional (5-29%)HP:0025190
Cobb angle greater than ten degrees
Occasional (5-29%)HP:0002650
Eyelid myoclonus
Occasional (5-29%)HP:0025097
High-tone sensorineural deafness
Occasional (5-29%)HP:0001757
Inability to walk
Occasional (5-29%)HP:0002540
Intellectual deterioration
Occasional (5-29%)HP:0001268
Myoclonic status epilepticus
Occasional (5-29%)HP:0032667
Myoclonus of limbs
Occasional (5-29%)HP:0045084
Respiratory failure
Occasional (5-29%)HP:0002878
Sensorineural deafness
Occasional (5-29%)HP:0000407
Quick Facts
- SNOMED CT
- 703524005
- UMLS CUI
- C1834569
- Fully Specified Name
- Spinal muscular atrophy with progressive myoclonic epilepsy (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.