Spinal muscular atrophy with progressive myoclonic epilepsy

Preferred Label : Spinal muscular atrophy with progressive myoclonic epilepsy;

Symbol : SMAPME;

CISMeF acronym : SMAPME;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Myoclonus, hereditary, with progressive distal muscular atrophy;

Description : Spinal muscular atrophy with progressive myoclonic epilepsy is an autosomal recessive neuromuscular disorder characterized by childhood onset of proximal muscle weakness and generalized muscular atrophy due to degeneration of spinal motor neurons, followed by the onset of myoclonic seizures. The disorder is progressive, and usually results in loss of ambulation and early death from respiratory insufficiency (summary by Zhou et al., 2012).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the N-acylsphingosine amidohydrolase 1 gene (ASAH1, 613468.0006);

Laboratory abnormalities : Normal serum creatine kinase;

Prefixed ID : #159950;

Details

Origin ID

159950;

UMLS CUI

C1834569;

Automatic exact mappings (from CISMeF team)
- ASAH1 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Jankovic Rivera syndrome [MeSH concept]
- Spinal muscular atrophy with progressive myoclonic epilepsy (disorder) [SNOMED CT concept]
- Spinal muscular atrophy-progressive myoclonic epilepsy syndrome [ORDO Disease]
- jankovic rivera syndrome [MeSH Supplementary Concept]
- spinal muscular atrophy with progressive myoclonic epilepsy [Disease (Nov.)]
- spinal muscular atrophy with progressive myoclonic epilepsy [DO Concept]
DO Cross reference
- spinal muscular atrophy with progressive myoclonic epilepsy [DO Concept]
Genes related to phenotype
- N-acylsphingosine amidohydrolase 1 [OMIM gene]
HPO term(s)
- Areflexia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Degeneration of anterior horn cells [HPO term]
- Dementia [HPO term]
- Difficulty walking [HPO term]
- Facial palsy [HPO term]
- Fasciculations [HPO term]
- Frequent falls [HPO term]
- Generalized myoclonic seizure [HPO term]
- Generalized-onset seizure [HPO term]
- Gowers sign [HPO term]
- Juvenile onset [HPO term]
- Myoclonus [HPO term]
- Oral-pharyngeal dysphagia [HPO term]
- Progressive [HPO term]
- Progressive distal muscular atrophy [HPO term]
- Proximal muscle weakness [HPO term]
- Recurrent respiratory infections [HPO term]
- Respiratory insufficiency due to muscle weakness [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Spinal muscular atrophy [HPO term]
- Tongue fasciculations [HPO term]
- Tremor [HPO term]
Not associated HPO term(s)
- Elevated circulating creatine kinase concentration [HPO term]
ORDO concept(s)
- Spinal muscular atrophy-progressive myoclonic epilepsy syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Jankovic Rivera syndrome [MeSH concept]
- Spinal muscular atrophy with progressive myoclonic epilepsy (disorder) [SNOMED CT concept]
- Spinal muscular atrophy-progressive myoclonic epilepsy syndrome [ORDO Disease]
- jankovic rivera syndrome [MeSH Supplementary Concept]
- spinal muscular atrophy with progressive myoclonic epilepsy [Disease (Nov.)]
- spinal muscular atrophy with progressive myoclonic epilepsy [DO Concept]

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