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Symptoms of Duchenne and Becker muscular dystrophy
Duchenne and Becker muscular dystrophy present in males with progressive proximal muscle weakness as well as pseudohypertrophy of the calf muscles associated with markedly elevated CK levels and myopathic features on EMG.
Symptoms begin in infancy or early childhood in DMD while BMD presents later. Many patients develop heel contractures and skeletal deformities as a result of weakness.
About 90% of patients have electrocardiogram abnormalities, but symptomatic involvement occurs in less than 1% of patients.
What organs other than skeletal muscle are involved in Duchenne and Becker muscular dystrophy?
Although the heart may be enlarged with minimal fibrosis, the myocardial muscle fibers do not undergo necrosis or other myopathic changes.
There is also an increased incidence of GI hypomotility that may lead to intestinal pseudo-obstruction and gastric dilatation.
Finally, pachygyria and smaller-than-normal brains have been noted in some patients with DMD. In addition, an association between mental retardation and mutations causing central exon deletions has been observed.
Sources
- Authier FJ, Chariot P, Gherardi R: Skeletal muscle involvement in human immunodeficiency virus (HIV) infected patients in the era of highly active antiretroviral therapy (HAART). Muscle Nerve 32:247-260, 2005.
- Berman BD: Neuroleptic malignant syndrome: a review for neurohospitalists. Neurohospitalist 1(1):41–47, 2011.
- Baskin B, Banwell B, Khater RA et al.: Becker muscular dystrophy caused by an intronic mutation reducing the efficiency of the splice donor site of intron 26 of the dystrophin gene. Neuromuscul Disord 19:189-192, 2009.
