[Congenital atonic-sclerotic muscular dystrophy (Ullrich disease)].
A case of congenital atonic-sclerotic muscular dystrophy is described, with a combination of proximal joint rigidity and distal hypotonia and hyperextensibility, besides torticollis and kyphoscoliosis. These severe congenital defects usually prevent walking and are followed by chronic respiratory insufficiency, with a fatal outcome in the long term. An autosomal recessive type of heredity is implied. There is not sensory or intellectual impairment, therefore it can be distinguished from other congenital muscular dystrophies, that usually have CNS abnormalities associated.
Fernández
M
M
Departamento de Pediatría, Hospital de Cruces, Baracaldo, Vizcaya.
Pacheco
M
M
Garaizar
C
C
Prats
J M
JM
D005500:Follow-Up Studies; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D007738:Kyphosis / Q000235:genetics; D008297:Male; D009132:Muscles / Q000473:pathology; D009136:Muscular Dystrophies / Q000150:complications / Q000151:congenital* / Q000235:genetics / Q000473:pathology; D011660:Pulmonary Heart Disease / Q000209:etiology; D012131:Respiratory Insufficiency / Q000209:etiology; D012600:Scoliosis / Q000235:genetics
Distrofia muscular congénita atónico-esclerótica (enfermedad de Ullrich).