Referenced in: none

Automatically associated channels: ClC1 , ClC4

Title: Stiffness as a presenting symptom of an odd clinical condition caused by multiple sclerosis and myotonia congenita.

Authors: Simona Portaro, Olimpia Musumeci, Vincenzo Rizzo, Carmelo Rodolico, Mary G Sweeney, Maria Buccafusca, Michael G Hanna, Antonio Toscano

Journal, date & volume: Neuromuscul. Disord., 2013 Jan , 23, 52-5

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/22921319

Abstract
A 24-year-old woman complained of a 4-year history of muscle cramps, stiffness of the right lower limb and walking difficulties. After clinical and laboratory investigations, a diagnosis of multiple sclerosis was made. However, her family history revealed that her father and an older sister had lifelong symptoms of impaired muscle relaxation following contraction, improving with physical exercise. Molecular genetic studies in both sisters confirmed the diagnosis of myotonia congenita, due to a c.568GG>TC (Gly190Ser) pathogenic mutation in CLCN1 gene. Occurrence of two different neurological conditions in the same patient, both manifesting with stiffness, is quite unusual and suggests the opportunity of an accurate differential diagnosis.