Hereditary motor and sensory neuropathy Okinawa type mimicking proximal myopathy.
Clin Neurol Neurosurg
; 239: 108213, 2024 04.
Article
em En
| MEDLINE
| ID: mdl-38479034
ABSTRACT
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.854â¯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.
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Base de dados:
MEDLINE
Assunto principal:
Neuropatia Hereditária Motora e Sensorial
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Doenças Musculares
Limite:
Female
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Humans
País como assunto:
America do sul
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Brasil
Idioma:
En
Ano de publicação:
2024
Tipo de documento:
Article