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Spinal Muscular Atrophy of Childhood

MedGen UID:
148615
•Concept ID:
C0700595
•
Disease or Syndrome
Synonym: Spinal Muscular Atrophies of Childhood

Definition

A group of congenital neurodegenerative disorders affecting motor neurons, resulting in muscle weakness and atrophy in childhood. Signs and symptoms include hypotonia, difficulty breathing, poor feeding, and flaccid quadriplegia. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSpinal Muscular Atrophy of Childhood

Professional guidelines

PubMed

Phenotype and genotype correlation in childhood spinal muscular atrophy.
Hausmanowa-Petrusewicz I
Neurol Neurochir Pol 2001;35 Suppl 3:29-35. PMID: 12001651
The diagnosis and orthopaedic treatment of childhood spinal muscular atrophy, peripheral neuropathy, Friedreich ataxia, and arthrogryposis.
Shapiro F, Specht L
J Bone Joint Surg Am 1993 Nov;75(11):1699-714. doi: 10.2106/00004623-199311000-00017. PMID: 8245065

Recent clinical studies

Etiology

Chronic proximal spinal muscular atrophy of childhood and adolescence: problems of classification and genetic counselling.
Hausmanowa-Petrusewicz I, Zaremba J, Borkowska J
J Med Genet 1985 Oct;22(5):350-3. doi: 10.1136/jmg.22.5.350. PMID: 4078864Free PMC Article
Motor nerve conduction velocity in spinal muscular atrophy of childhood.
Moosa A, Dubowitz V
Arch Dis Child 1976 Dec;51(12):974-7. doi: 10.1136/adc.51.12.974. PMID: 1015851Free PMC Article

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