Type III spinal muscular atrophy mimicking muscular dystrophies.
Pediatr Neurol
; 48(5): 363-6, 2013 May.
Article
em En
| MEDLINE
| ID: mdl-23583053
ABSTRACT
Types III and IV spinal muscular atrophy represent a diagnostic challenge due to the great variability in their presentation. We report a series of eight patients with type III spinal muscular atrophy who were followed for a long time for possible muscular dystrophy or myopathy, confirming its clinical heterogeneity and propensity to delayed diagnosis. Clinical examination revealed heterogeneous findings, where the diagnosis of type III spinal muscular atrophy was not immediately apparent in many patients as their clinical and laboratory abnormalities were consistent with muscular dystrophy or myopathy. The presence of dystrophic features such as hypertrophy of the calves, weakness of the limb girdle, high serum creatine kinase levels, and myopathic histopathology should not divert attention from the possibility of spinal muscular atrophy. It is strongly recommended to give variable presentations enough thought and to consider the autosomal recessive type III spinal muscular atrophy in the diagnostic evaluation.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Atrofias Musculares Espinais da Infância
/
Distrofias Musculares
Tipo de estudo:
Diagnostic_studies
/
Etiology_studies
Limite:
Adolescent
/
Adult
/
Child
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Child, preschool
/
Female
/
Humans
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Male
Idioma:
En
Ano de publicação:
2013
Tipo de documento:
Article