{Reference Type}: Case Reports
{Title}: Hereditary motor and sensory neuropathy Okinawa type mimicking proximal myopathy.
{Author}: Braga VL;Tamanini JVG;Gama SM;Fraiman PHA;Silva TYT;Santos-Neto D;Barsottini OGP;Pedroso JL;
{Journal}: Clin Neurol Neurosurg
{Volume}: 239
{Issue}: 0
{Year}: 2024 04 28
{Factor}: 1.885
{DOI}: 10.1016/j.clineuro.2024.108213
{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.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.