A "Triple Trouble" Case of Facioscapulohumeral Muscular Dystrophy Accompanied by Peripheral Neuropathy and Myoclonic Epilepsy.

Conclusions: The present study described a "tripe trouble" with FSHD, peripheral neuropathy, and myoclonic epilepsy, adding the spectrum of overlapping syndromes and contributing to the credible diagnosis of atypical phenotype. It would provide a direct clue on medical care and genetic counseling. PMID: 30203790 [PubMed - in process]

https://www.ncbi.nlm.nih.gov/pubmed/30203790?dopt=Abstract

Source: Chinese Medical Journal - September 12, 2018 Category: General Medicine Authors: Lin XD, He JJ, Lin F, Chen HZ, Xu LQ, Hu W, Cai NQ, Lin MT, Wang N, Wang ZQ, Xu GR Tags: Chin Med J (Engl) Source Type: research