Stiffness as a presenting symptom of an odd clinical condition caused by multiple sclerosis and myotonia congenita.
Neuromuscul Disord
; 23(1): 52-5, 2013 Jan.
Article
en En
| MEDLINE
| ID: mdl-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.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Esclerosis Múltiple
/
Espasticidad Muscular
/
Miotonía Congénita
Tipo de estudio:
Diagnostic_studies
Límite:
Adult
/
Female
/
Humans
Idioma:
En
Revista:
Neuromuscul Disord
Asunto de la revista:
NEUROLOGIA
Año:
2013
Tipo del documento:
Article
País de afiliación:
Italia