HSPB related distal myopathy

Pathology

• HSP is a small heat-shock protein
• It helps to maintain myofibrillar structure during stress

HSPB1 related distal vacuolar myopathy

HSPB1 related distal myopathy with motor neuropathy

HSPB related distal hereditary motor neuropathy (dHMN)

Other HSPB related neuromuscular disorders

References

1. Bugiardini E, Rossor AM, Lynch DS, et al. Homozygous mutation in HSPB1 causing distal vacuolar myopathy and motor neuropathy. Neurol Genet 2017; 3:e168.
2. Lewis-Smith DJ, Duff J, Pyle A, et al. Novel HSPB1 mutation causes both motor neuronopathy and distal myopathy. Neurol Genet 2016; 2:e110.
3. 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.
4. 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.
5. 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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Related checklists

• Distal myopathies: types and differentials
• Nonaka distal myopathy
• Miyoshi distal myopathy
• Welander distal myopathy
• Laing distal myopathy
• Udd distal myopathy
• Markesbery-Griggs distal myopathy
• Oculopharyngodistal myopathy (OPDM)
• Actinopathy