Spinal muscular atrophy mimicking myotonic dystrophy: a case report and clinical, pathological and genetic analysis / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 455-458, 2012.
Artigo
em Chinês
| WPRIM
| ID: wpr-232276
ABSTRACT
<p><b>OBJECTIVE</b>To investigate a patient featuring a complex neuromuscular disease phenotype.</p><p><b>METHODS</b>A comprehensive analysis integrating clinical investigation, electrophysiological testing, pathological analysis and mutation screening was carried out.</p><p><b>RESULTS</b>The patient has presented clinical and pathological manifestations mimicking Duchenne muscular dystrophy. However, genetic analysis has identified no deletion in 21 exons of Dystrophin gene, no pathologic expansion of CTG repeats in DMPK gene or CCTG repeats in ZFN9 gene. Instead, a homozygous deletion of exons 7 and 8 in SMN gene was discovered.</p><p><b>CONCLUSION</b>A rare case of spinal muscular atrophy (SMA) was verified by genetic diagnosis. SMA is a group of neuromuscular disorders with great phenotypic heterogeneity and sometimes cannot be diagnosed by clinical manifestations, electrophysiological and pathological changes alone. Genetic diagnosis has become indispensable for accurate diagnosis for patients suspected to have the disease.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Patologia
/
Fenótipo
/
Atrofia Muscular Espinal
/
Proteínas Serina-Treonina Quinases
/
Diagnóstico
/
Diagnóstico Diferencial
/
Proteínas do Complexo SMN
/
Miotonina Proteína Quinase
/
Genética
/
Distrofia Miotônica
Tipo de estudo:
Estudo diagnóstico
/
Estudo prognóstico
Limite:
Adulto
/
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2012
Tipo de documento:
Artigo
Similares
MEDLINE
...
LILACS
LIS