White matter abnormalities in congenital muscular dystrophy

Abstract

Central nervous system (CNS) characteristics were examined in seventeen patients with autosomal recessive classic or " pure5 5 congenital muscular dystrophy (C M D ). In three patients, neuroradiological examination (C T /M R I) indicated hypodense white matter areas. Two out o f these three patients had epilepsy (seizures and epileptic discharges on their E E G ). Only two of the remaining patients had epileptic E E G discharges, but without clinical seizures. By comparing our results to data in the literature, we could conclude that the classic or " pure" form of C M D can be subdivided into two subtypes, i.e. those with and those without white matter hypodensities. A mild form of epilepsy or an epileptic predisposition on E E G can be part of the subtype with white matter hypodensities.

Coexisting Muscular Dystrophies and Epilepsy in Children

“…However, three other patients with partial merosin deficiency with late-onset epilepsy were reported with only white-matter changes. 10 Facioscapulohumeral muscular dystrophy is an autosomal dominant disorder with an onset usually before age 20 years and is characterized by progressive weakness affecting bilateral facial, shoulder girdle, and upper arm muscles. It is mapped to chromosome 4q35.…”

“…The protein truncation test exploits the use of dystrophin messenger RNA transcript, which makes mutation screening more manageable as the transcript is only 14 kb in size. [9][10][11] Using messenger RNA is technically challenging as it is rapidly degraded, 11 such that only fresh specimens can be used. In addition, the amount of dystrophin transcripts present in lymphocytes is much lower than in muscles.…”

Merosin and congenital muscular dystrophy

“…Patients with mental retardation are rare. Patients who have epilepsy are often reported (Cohn et al, 1998;Leyten et al, 1995;Pegoraro et al, 1998). Brain MRI findings, which are found in almost all patients of merosin-deficiency, may be a valuable criterion for diagnosis of merosin deficiency in patients with classic congenital muscular dystrophy (Lamer et al, 1998).…”