1/2. Becker muscular dystrophy combined with X-linked Charcot-Marie-Tooth neuropathy.A man was identified with two X-chromosomal neuromuscular disorders, X-linked charcot-marie-tooth disease (CMTX) and Becker muscular dystrophy (BMD). The neuropathy could be tracked in the family and was found to be caused by a mutation in the connexin32 gene on Xq13. 1. The muscular dystrophy was sporadic owing to a de novo deletion in the dystrophin gene located in band Xp21.2. Although these genetic alterations of the same X-chromosome are considered as physically independent, their combination resulted in a unique phenotype with severe wasting of proximal as well as distal muscles and rapid progression of both conditions.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/2. Depressed left ventricular contractile reserve diagnosed by dobutamine stress echocardiography in a patient with Duchenne muscular dystrophy.Cardiomyopathy is a leading cause of death in patients with Duchenne muscular dystrophy. Congestive heart failure is often sub-clinical and unrecognized as a result of the severe physical limitations of this patient population. We report the case of a 16-year-old boy with Duchenne muscular dystrophy who demonstrated normal left ventricular systolic function at rest by screening transthoracic echocardiogram. This patient, however, was noted to have depressed left ventricular contractile reserve by dobutamine stress echocardiography. dobutamine stress echocardiography can have an important role in unmasking subclinical heart failure in this patient population.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |