Condrodystrophic Myotonia

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

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