Life-Long Steroid Responsive Familial Myopathy With Docking Protein 7 Mutation.
J Clin Neuromuscul Dis
; 24(2): 80-84, 2022 Dec 01.
Article
em En
| MEDLINE
| ID: mdl-36409338
ABSTRACT
ABSTRACT Docking protein 7 (DOK7) congenital myasthenic syndrome (CMS) is characterized by limb-girdle weakness and lack of fluctuating fatigability simulating many familial myopathies. Albuterol is the first line of therapy in view of consistent improvement. Two brothers with progressive predominant biceps weakness for 1-3 years responded to prednisone treatment for 40-50 years. Various studies including muscle biopsy and many laboratory studies were unsuccessful for the definite diagnosis. Gene study, 40 years after the initial evaluation, confirmed the diagnosis of DOK7 CMS. These are the first reported cases of DOK7 CMS associated with a sustained benefit from corticosteroids.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndromes Miastênicas Congênitas
Limite:
Humans
/
Male
Idioma:
En
Revista:
J Clin Neuromuscul Dis
Ano de publicação:
2022
Tipo de documento:
Article