title: Stiffness as a presenting symptom of an odd clinical condition caused by multiple sclerosis and myotonia congenita.
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.
authors.affiliation: Department of Neurosciences, Psychiatry and Anestesiology, University of Messina, Messina, Italy. simonaportaro@hotmail.it
authors.forename: Simona
authors.initials: S
authors.lastname: Portaro
authors.forename: Olimpia
authors.initials: O
authors.lastname: Musumeci
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Rizzo
authors.forename: Carmelo
authors.initials: C
authors.lastname: Rodolico
authors.forename: Mary G
authors.initials: MG
authors.lastname: Sweeney
authors.forename: Maria
authors.initials: M
authors.lastname: Buccafusca
authors.forename: Michael G
authors.initials: MG
authors.lastname: Hanna
authors.forename: Antonio
authors.initials: A
authors.lastname: Toscano
mesh_terms: D018118:Chloride Channels / Q000235:genetics; D015897:Comorbidity; D004576:Electromyography; D005260:Female; D006801:Humans; D009103:Multiple Sclerosis / Q000150:complications* / Q000175:diagnosis / Q000453:epidemiology*; D009119:Muscle Contraction / Q000502:physiology; D009126:Muscle Relaxation / Q000502:physiology; D009128:Muscle Spasticity / Q000209:etiology* / Q000503:physiopathology; D009154:Mutation / Q000235:genetics; D009224:Myotonia Congenita / Q000150:complications* / Q000175:diagnosis / Q000453:epidemiology*; D010375:Pedigree; D055815:Young Adult
chemical_list: C086321:CLC-1 channel; D018118:Chloride Channels