Late onset distal hereditary motor neuropathy type IIB (dHMN IIB) – case reports
Department of Neurology and Clinical Neuroimmunology, Regional Specialist Hospital in Grudziadz, Grudziądz, Poland
Correspondence: Mateusz Spławski, Department of Neurology and Clinical Neuroimmunology, Regional Specialist Hospital in Grudziadz, Rydygiera 15/17, 86-300 Grudziądz, Poland, tel.: +48 56 641 44 51, +48 661 239 593, e-mail: mateusz.splawski87@gmail.com
Aktualn Neurol 2018, 18 (3), p. 144–147
DOI: 10.15557/AN.2018.0020
ABSTRACT

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.

Keywords: dHMN, late onset dHMN IIB, HSP27 gene, T151I mutation