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Arquivos de Neuro-Psiquiatria

Print version ISSN 0004-282X

Arq. Neuro-Psiquiatr. vol.49 no.3 São Paulo Sept. 1991

https://doi.org/10.1590/S0004-282X1991000300006 

CONTENTS CONTEÚDO

 

Distrofia muscular congênita estudo clinico de 17 pacientes

 

Congenital muscular dystrophy: a clinical report on 17 patients.

 

 

A. S. B. OliveiraI; A. A. GabbaiII; B. H. KiyomotoI; A. Ferreira NetoIII; B. SchmidtIV; J. G. C. LimaV

IPós-graduando - Trabalho realizado na Disciplina de Neurologia da Escola Paulista de Medicina
IIProfessor Adjunto - Trabalho realizado na Disciplina de Neurologia da Escola Paulista de Medicina
IIIEstagiário - Trabalho realizado na Disciplina de Neurologia da Escola Paulista de Medicina
IVProfessor de Pós-Graduação - Trabalho realizado na Disciplina de Neurologia da Escola Paulista de Medicina
VProfessor Titular - Trabalho realizado na Disciplina de Neurologia da Escola Paulista de Medicina

 

 


RESUMO

Descrevemos 17 pacientes (12m, 5f) com idades que variaram de 1 a 24 anos (mediana 6 anos) com distrofia muscular congênita (DMC), que foram estudados do ponto de vista genético, clínico, laboratorial, eletrofisiológico e anátomo-patológico. A apresentação segundo a herança foi da forma esporádica (76,5%) ou possivelmente autossômica recessiva (23,5%). A diminuição da movimentação fetal intra-uterina foi referida em 57% dos casos, hipotonia neonatal em 82% e retardo no desenvolvimento motor em 88,2%. Fraqueza muscular, diminuição dos reflexos profundos e contraturas articulares estavam presentes em todos os casos. A piora na função motora estava muito relacionada ao aumento ou aparecimento de novas retrações articulares. A CK nunca ultrapassou valores acima de 8 vezes o normal. O ENMG foi de padrão miopático em 73,3%, neuropático em 13,3% e normal em 13,3% dos casos. Aspectos tomográficos com hipodensidade da substância branca subcortical foram vistos em 8 casos. Ao tratamento impôs-se fisioterapia adequada e cirurgia corretiva das deformidades articulares. Novas contraturas desenvolveram-se mais tarde e estavam relacionadas freqüentemente a fisioterapia insuficiente.


SUMMARY

We concur with the idea that congenital muscular dystrophy (CMD) is a distinct clinical entity, and report 17 patients (2 negroes and 15 whites; 12M and 5 F; median age 6 years, range 1 to 24 years) with genetic, clinical, laboratorial, electrophysiological and histochemical studies. All our cases have an inheritance compatible with an autosomal recessive pattern. A decrease in fetal movements was reported by 57% of the mothers, generalized hypotonia at birth was present in 82%, limb girdle and neck weakness, absent or decreased deep tendon reflexes, and limb contractures were present in all. Severe muscular wasting was found in 41%. Calf pseudo-hypertrophy was observed in one patient. A patient was severely mentally retarded and another was borderline. During a 30-month follow-up, the muscle weakness of the majority remained essentially unchanged but the degree of motor activity deteriorated and was proportional to the worsening of the limb contractures. Serum CK levels were normal or increased to a maximum of 8 times. The electromyogram was myopathic in 74%, neurogenic in 13% and normal in 13%. CT scans showed a symmetrical white matter hipodensity in the hemispheres in 8 cases. All but 5 patients were operated upon to release the limb contractures and all were submitted to physical therapy. The contractures recurred in 4 patients submitted to surgery and were probably related to the cessation of physical therapy.


 

 

Texto completo disponível apenas em PDF.

Full text available only in PDF format.

 

 

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