- OMIM ID: 603323
- OMIM diseaseName: 603323 MUSCULAR DYSTROPHY, CONGENITAL, WITH CEREBELLAR ATROPHY
- OMIM diseaseClinical_Synopsis:
- OMIM diseaseText: Echenne et al. (1998) described 4 patients, 2 of whom were sibs, with
congenital muscular dystrophy, mild intellectual impairment, and
moderate to severe cerebellar atrophy. In addition, they referred to 4
earlier reports of sporadic cases with isolated cerebellar atrophy with
features of the Dandy-Walker syndrome in the presence of congenital
myopathy. Onset of the disorder in the patients reported by Echenne et
al. (1998) was neonatal in 2 cases and at 3 and 7 months in the others.
The brother and sister were 13 and 16 years of age at follow-up.
Creatine kinase was markedly elevated. Merosin, dystrophin, and
sarcoglycan immunostaining of skeletal muscle showed no abnormality. The
authors believed the disorder could be differentiated from the
dystroglycanopathies Fukuyama congenital muscular dystrophy (253800),
Walker-Warburg syndrome, and muscle-eye-brain disease (see, e.g.,
236670). They suggested that congenital muscular dystrophy with
cerebellar atrophy is a distinct autosomal recessive disorder.
- OMIM diseaseSee_Also:
- OMIM diseaseAllelic_Variants:
- OMIM diseaseCreation_Date: Orest Hurko: 11/30/1998
- OMIM diseaseEdit_History_Data: ckniffin: 11/15/2010
- OMIM diseaseContributors:
- OMIM diseaseReference: 1. Echenne, B.; Rivier, F.; Tardieu, M.; Brive, M.; Robert, A.; Pages,
A. M.; Pons, F.; Mornet, D.: Congenital muscular dystrophy and cerebellar
atrophy. Neurology 50: 1477-1480, 1998.