HSPB related distal myopathy
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
HSPB related distal myopathy. HSP is a small heat-shock protein. Fully referenced neurology checklist.
Pathology
- HSP is a small heat-shock protein
- It helps to maintain myofibrillar structure during stress
HSPB1 related distal vacuolar myopathy
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HSPB1 related distal myopathy with motor neuropathy
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HSPB related distal hereditary motor neuropathy (dHMN)
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Other HSPB related neuromuscular disorders
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References
- Bugiardini E, Rossor AM, Lynch DS, et al. Homozygous mutation in HSPB1 causing distal vacuolar myopathy and motor neuropathy. Neurol Genet 2017; 3:e168.
- Lewis-Smith DJ, Duff J, Pyle A, et al. Novel HSPB1 mutation causes both motor neuronopathy and distal myopathy. Neurol Genet 2016; 2:e110.
- Ghaoui R, Palmio J, Brewer J, et al. Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy. Neurology 2016; 86:391-398.
- Dierick I, Baets J, Irobi J, et al. Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study. Brain 2008; 131:1217-1227.
- Houlden H, Laura M, Wavrant-De Vrièze F, Blake J, Wood N, Reilly MM. Mutations in the HSP27 (HSPB1) gene cause dominant, recessive, and sporadic distal HMN/CMT type 2. Neurology 2008; 71:1660-1668.
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