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Late onset distal hereditary motor neuropathy type IIB (dHMN IIB) – case reports

Mateusz Spławski, Katarzyna Broniarek, Robert Bonek

Affiliacja i adres do korespondencji
Aktualn Neurol 2018, 18 (3), p. 144–147
DOI: 10.15557/AN.2018.0020
Streszczenie

Distal hereditary motor neuropathies are a heterogeneous group of rare, genetically determined neuromuscular disorders. Distal hereditary motor neuropathy type IIB is an autosomal dominant disorder, and the onset of symptoms is observed in adulthood. Mutation refers to heat shock protein 27, also known as heat shock protein beta-1. The main symptoms of distal hereditary motor neuropathy type IIB are muscular atrophy and paresis of distal limb muscles. In this article, we present the first Polish case of familial late onset distal hereditary neuropathy type IIB with a T151I mutation (p.Thr151Ile) in one allele of the heat shock protein 27 gene. The first symptoms of the disease in our patients began around the age of 60.

Słowa kluczowe
dHMN, late onset dHMN IIB, HSP27 gene, T151I mutation