医学
感觉神经病变
肌病
感觉系统
遗传性运动和感觉神经病
神经科学
物理医学与康复
病理
内科学
疾病
生物
作者
Vinícius Lopes Braga,João Vitor Gerdulli Tamanini,S. Gama,Pedro Henrique Almeida Fraiman,Thiago Yoshinaga Tonholo Silva,Denizart Santos-Neto,Orlando Graziani Póvoas Barsottini,José Luiz Pedroso
标识
DOI:10.1016/j.clineuro.2024.108213
摘要
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.
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