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Proximal Dominant Hereditary Motor and Sensory Neuropathy with TFG Mutation: First Case Report from India
Afroz F Ansari1, Kamlesh Jagiasi1, Pawan Ojha1
1Department of Neurology, Grant Government Medical College and JJ Hospitals, Mumbai, Maharashtra, India.
Neurology India
|July 22, 2022
Summary
Hereditary motor and sensory neuropathy with proximal predominance (HMSN-P) is a rare autosomal dominant disorder. This case report highlights its presentation in India, emphasizing the need for broader clinical awareness beyond its traditional geographic confines.
Area of Science:
- Neurology
- Genetics
- Rare Diseases
Background:
- Hereditary motor and sensory neuropathy with proximal predominance (HMSN-P) is a rare, autosomal dominant degenerative disorder.
- First described in Japanese populations, HMSN-P is characterized by adult-onset proximal muscle weakness, atrophy, and areflexia.
Observation:
- A 56-year-old male patient in India presented with clinical features consistent with HMSN-P.
- The patient exhibited a positive family history, supporting the autosomal dominant inheritance pattern.
- Clinical, electrophysiological, and genetic factors were evaluated.
Findings:
- The patient's presentation aligns with the known characteristics of HMSN-P, including proximal weakness and atrophy.
- The case confirms the occurrence of HMSN-P in a non-endemic region, challenging its previously perceived geographic limitations.
Implications:
- The findings suggest that HMSN-P may be underdiagnosed in non-endemic regions.
- Clinicians worldwide should consider HMSN-P in patients presenting with characteristic symptoms, regardless of geographic origin.
- Increased awareness is crucial for timely diagnosis and management of this rare hereditary neuropathy.
