Distal Motor Neuropathy as a Manifestation of Charcot-Marie-Tooth Type 2F: An Exceptional Case in the Dominican Republic
Madelein Gomez1, Minelly Rodriguez Severino1, Luis Tusen1, Rosa Elba Medina1, Vifranny Espaillat Duran1, Enoch De los Rios1, Abigail Jean1, Genesis Mendez1, Rosa Cheas Guerrero1, Marielba Caceres Lora1, NELCIDY MORONTA BAEZ1, Jirandy Perez1, Luis Gutierrez Vasquez1, Karolin Castro1, Axel Reyes1
1Hospital Dr. Salvador B. Gautier
Objective:
To describe a rare case of Charcot-Marie-Tooth disease type 2F (CMT2F) associated with a pathogenic HSPB1 gene mutation in a Dominican patient, highlighting the clinical presentation, diagnostic challenges, and the importance of genetic testing for peripheral neuropathies in countries with limited access to molecular diagnostics.
Background:
Charcot-Marie-Tooth (CMT) disease is a chronic hereditary neuropathy that affects approximately 1 in 2,500 people worldwide, although the true prevalence varies among populations. It is classified into subtypes according to the inheritance pattern and whether demyelinating or axonal involvement predominates.
Type 2 (CMT2) corresponds to the axonal form, usually autosomal dominant, characterized by distal muscle atrophy, progressive weakness, and mild sensory loss. Within this group, CMT2F is associated with mutations in the HSPB1 (Heat Shock Protein Beta-1) gene, which plays a critical role in neuronal cytoskeletal stability and cellular stress response.
In the Dominican Republic, scientific literature on CMT is extremely limited, with no systematic records of incidence or population-based genetic studies. Therefore, this case constitutes a rare and significant finding, contributing to the local understanding of hereditary neuropathies.
Design/Methods:
Case report of a 38-year-old Dominican patient with distal motor neuropathy. Neurological, electrophysiological, and genetic studies were conducted to determine the etiology. Genetic testing confirmed an HSPB1 mutation consistent with CMT type 2F.
Results:
The patient presented with distal muscle weakness, atrophy, and steppage gait. Electrophysiological studies showed distal axonal motor neuropathy, and genetic testing revealed a pathogenic HSPB1 mutation, confirming CMT type 2F. No response to immunoglobulin therapy was observed, supporting a hereditary rather than inflammatory etiology.
Conclusions:
This rare case of CMT2F in a Dominican patient underscores the need for genetic testing in unexplained distal neuropathies and contributes to the limited regional data on hereditary neuromuscular disorders.
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