Spinal muscular atrophy, type I

Preferred Label : Spinal muscular atrophy, type I;

Symbol : SMA1;

CISMeF acronym : SMA1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Werdnig-hoffmann disease; Sma I; Sma, infantile acute form; Muscular atrophy, infantile;

Description : Spinal muscular atrophy refers to a group of autosomal recessive neuromuscular disorders characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. SMA is the second most common lethal, autosomal recessive disease in Caucasians after cystic fibrosis (219700) (Wirth, 2000). Four types of SMA are recognized depending on the age of onset, the maximum muscular activity achieved, and survivorship: type I, severe infantile acute SMA, or Werdnig-Hoffman disease; type II (253550), or infantile chronic SMA; type III (253400), juvenile SMA, or Wohlfart-Kugelberg-Welander disease; and type IV (271150), or adult-onset SMA. All types are caused by recessive mutations in the SMN1 gene. Lunn and Wang (2008) provided a detailed review of clinical features, molecular pathogenesis, and therapeutic strategies for SMA.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the survival of motor neuron 1 gene (SMN1, 600354.0001);

Prefixed ID : #253300;

Details

Origin ID

253300;

UMLS CUI

C0043116;

Automatic exact mappings (from CISMeF team)
- SMN1 wt Allele [NCIt concept]
- Small Nuclear Ribonucleoprotein F [NCIt concept]
- spinal muscular atrophies of childhood [MeSH Descriptor]
- survival of motor neuron 1, telomeric [ORDO Gene]
- survival of motor neuron 1, telomeric [HGNC gene]
Broader ORDO disease(s)
- Proximal spinal muscular atrophy [ORDO Disease]
Currated CISMeF NLP mapping
- HMN (Hereditary motor neuropathy) proximal type I [MeSH concept]
- Infantile spinal muscular atrophy, Type I [ICD-11 Subcategory]
- Infantile spinal muscular atrophy, type I [Werdnig-Hoffman] [ICD-10 Sub-category]
- Infantile spinal muscular atrophy, type I [Werdnig-Hoffman] [ICD-10 Sub-category (who)]
- Proximal spinal muscular atrophy type 1 [ORDO Disease]
- Spinal muscular atrophy type I [MedDRA LLT]
- Werdnig-Hoffmann Disease [NCIt concept]
- Werdnig-Hoffmann disease [ICD-9 code]
- Werdnig-Hoffmann disease [DO Concept]
- Werdnig-Hoffmann disease [PASCAL descriptor]
- Werdnig-Hoffmann disease [MedDRA LLT]
- Werdnig-Hoffmann disease (disorder) [SNOMED CT concept]
- spinal muscular atrophy type I [Disease (Nov.)]
- werdnig-hoffmann disease [SNOMED Notion]
DO Cross reference
- Werdnig-Hoffmann disease [DO Concept]
Genes related to phenotype
- Survival of motor neuron 1 [OMIM gene]
HPO term(s)
- Areflexia [HPO term]
- Atrial septal defect [HPO term]
- Autosomal recessive inheritance [HPO term]
- Death in childhood [HPO term]
- Decreased fetal movement [HPO term]
- EMG: neuropathic changes [HPO term]
- Generalized hypotonia [HPO term]
- Infantile onset [HPO term]
- Muscle weakness, symmetric, proximal (lower limbs more affected than upper limbs) due to motor neuronopathy [HPO term]
- Neonatal onset [HPO term]
- Poor head control [HPO term]
- Proximal amyotrophy [HPO term]
- Proximal muscle weakness in lower limbs [HPO term]
- Recurrent respiratory infections [HPO term]
- Respiratory failure [HPO term]
- Respiratory insufficiency [HPO term]
- Spinal muscular atrophy [HPO term]
- Tongue fasciculation/fibrillation [HPO term]
- Tongue fasciculations [HPO term]
- Ventricular septal defect [HPO term]
ORDO concept(s)
- Proximal spinal muscular atrophy [ORDO Disease]
- Proximal spinal muscular atrophy type 1 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- HMN (Hereditary motor neuropathy) proximal type I [MeSH concept]
- Infantile spinal muscular atrophy, Type I [ICD-11 Subcategory]
- Infantile spinal muscular atrophy, type I [Werdnig-Hoffman] [ICD-10 Sub-category (who)]
- Infantile spinal muscular atrophy, type I [Werdnig-Hoffman] [ICD-10 Sub-category]
- Proximal spinal muscular atrophy type 1 [ORDO Disease]
- Spinal muscular atrophy infantile onset [MedDRA LLT]
- Spinal muscular atrophy type I [MedDRA LLT]
- Werdnig-Hoffmann Disease [NCIt concept]
- Werdnig-Hoffmann disease [MedDRA LLT]
- Werdnig-Hoffmann disease [ICD-9 code]
- Werdnig-Hoffmann disease [DO Concept]
- Werdnig-Hoffmann disease [PASCAL descriptor]
- Werdnig-Hoffmann disease (disorder) [SNOMED CT concept]
- spinal muscular atrophy type I [Disease (Nov.)]
- werdnig-hoffmann disease [SNOMED Notion]

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