Autosomal dominant spinal muscular atrophy (SMA)
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Autosomal dominant spinal muscular atrophy (SMA). This is caused by mutations in the TRPV4 and BICD2 genes. Fully referenced neurology checklist.
Genetics
- This is caused by mutations in the TRPV4 and BICD2 genes
- There is an overlap with hereditary spastic paraplegia (HSP)
- The mutation results in early loss of lumbar and cervical anterior horn cells
Muscle features
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Skeletal features
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Other features
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References
- Oates EC, Reddel S, Rodriguez ML, et al. Autosomal dominant congenital spinal muscular atrophy: a true form of spinal muscular atrophy caused by early loss of anterior horn cells. Brain 2012; 135:1714-1723.
- Rossor AM, Oates EC, Salter HK, et al. Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2. Brain 2015; 138:293-310.
- Peeters K, Litvinenko I, Asselbergh B, et al. Molecular defects in the motor adaptor BICD2 cause proximal spinal muscular atrophy with autosomal-dominant inheritance. Am J Hum Genet 2013; 92:955-964.
- Oates EC, Rossor AM, Hafezparast M, et al. Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegic. Am J Human Genet 2013; 92:965-973.
- Rudnik-Schöneborn S, Deden F, Eggermann K, et al. Autosomal dominant spinal muscular atrophy with lower extremity predominance: a recognizable phenotype of BICD2 mutations. Muscle Nerve 2016; 54:496-500.
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