Case series of three Filipino siblings diagnosed with Thomsen disease with T310M missense mutation
- Author:
Mario B Prado Jr
;
Karen Joy Adiao
- Publication Type:Case Reports
- Keywords:
Congenita myotonia;
Thomsen disease;
T310M mutation
- From:Neurology Asia
2020;25(4):581-586
- CountryMalaysia
- Language:English
-
Abstract:
Thomsen disease is an autosomal dominant, chloride channelopathy that presents with intermittent
muscular stiffness, usually at rest, and generalized but mild muscular hypertrophy. This is a rare
condition with a prevalence of 1:23,000 with only two unrelated individuals reported locally. Here we
present a summary of clinical, EMG and laboratory findings of three Filipino siblings aged twenty-two,
nineteen and seventeen, two of which were genetically confirmed to have T310M missense mutation,
who came to our clinic for difficulty in ambulation, intermittent cramping and muscle hypertrophy.
- Full text:20250724092518871737.2020my0082.pdf
