Double trouble in a patient with myotonia.
BMJ Case Rep
; 20132013 Feb 14.
Article
em En
| MEDLINE
| ID: mdl-23417379
ABSTRACT
Non-dystrophic myotonias (NDM) are characterised by muscle stiffness during voluntary movement owing to delayed skeletal muscle relaxation caused by mutations in the chloride (CLCN1) and sodium (SCN4A) skeletal muscle channel genes. Late onset acid maltase deficiency (AMD) is characterised by progressive respiratory and proximal muscle weakness; electrical but not clinical myotonia can be observed. Case report of a unique patient with concurrent NDM and AMD. We describe the clinical presentation and management of a patient with two rare neuromuscular disorders. This case illustrates the importance of reopening the differential diagnosis in patients who do not conform to the typical natural history of a specific disease.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
DNA
/
Canais de Cloreto
/
Músculo Esquelético
/
Predisposição Genética para Doença
/
Canal de Sódio Disparado por Voltagem NAV1.4
/
Mutação
/
Miotonia Congênita
Limite:
Adult
/
Humans
/
Male
Idioma:
En
Revista:
BMJ Case Rep
Ano de publicação:
2013
Tipo de documento:
Article
País de afiliação:
Estados Unidos