Hereditary motor and sensory neuropathy Okinawa type mimicking proximal myopathy

Hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P), or, Okinawa type, is a rare neuromuscular disorder characterized by proximal dominant neurogenic atrophy and distal sensory alterations with an autosomal dominant inheritance pattern. We present a case of a Brazilia...

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Bibliographic Details
Published in:Clinical neurology and neurosurgery 2024, Vol.239, p.108213-108213
Main Authors: Braga, Vinícius Lopes, Tamanini, João Vitor Gerdulli, Gama, Sofia Monaco, Fraiman, Pedro Henrique Almeida, Silva, Thiago Yoshinaga Tonholo, Santos-Neto, Denizart, Barsottini, Orlando Graziani Povoas, Pedroso, José Luiz
Format: Report
Language:English
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Summary:Hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P), or, Okinawa type, is a rare neuromuscular disorder characterized by proximal dominant neurogenic atrophy and distal sensory alterations with an autosomal dominant inheritance pattern. We present a case of a Brazilian woman of Okinawan ancestry, with symmetrical proximal weakness, fasciculations, absent patellar reflexes and positive familial history for the same symptoms. These findings led to genetic testing, which identified a variant in the TFG gene (c.854 C>T;p.(Pro285Leu), confirming the diagnosis of HMSN-P. HMSN-P seemed to be restricted to populations in Okinawa, however, other HMSN-P cases were described in several parts of the world, especially in South America. This case report emphasizes the importance of considering HMSN-P in patients presenting with clinical features resembling proximal myopathy, especially in individuals with Okinawan ancestry.
ISSN:1872-6968
DOI:10.1016/j.clineuro.2024.108213