Painful muscle cramps at the forefront in a very rare form of hereditary sensory-motor neuropathy

Okinawa-type neurogenic muscular atrophy (or HMSN-P) is an extremely rare hereditary neuropathy. Japanese researchers have taken a new interest in what is one of the very distinctive features of the disease, namely cramps, which are often inaugural and painful:

• 16 previously diagnosed HMSN-P patients had their initial cramps re-evaluated,
• In this disease, which leads after 20 to 30 years to a picture comparable to that of ALS with respiratory involvement, these cramps are remarkable for their abdominal topography, unlike motor neurone diseases (ALS and others).
• The study also helped to clarify the natural history of HMSN-P and to gauge patients’ expectations regarding treatment.

 

Re-survey of 16 Japanese patients with advanced-stage hereditary motor sensory neuropathy with proximal dominant involvement (HMSN-P): Painful muscle cramps for early diagnosis. Shoji H, Sakamoto R, Saito C et al. Intractable Rare Dis Res. 2023 Aug.