This is a very rare condition
Synonyms:
a.k.a. Schwartz-Jampil Syndrome SJS
Clinical features:
Myotonia +distichiasis (double row of eyelashes)
Findings on investigations:
EMG: Myotonia
Genetics:
Autosomal recessive
Genetics: Perlecan gene mutation, HSPG2 gene chr. 1p35-p36.1
Related articles:
- Myopathy,
- Myotonic dystrophy DM1, Proximal myotonic myopathy (Myotonic dystrophy DM2), Myotonia Congenita (Thomsen’s disease)