Supporting research into Facioscapulohumeral Muscular Dystrophy.
Monday, June 28, 2010
FSH presenting with hypertrophic cardiomyopathy: A case study
Only three facioscapulohumeral muscular dystrophy (FSHD) patients have been reported to have cardiomyopathy. An asymptomatic 38-year-old man was incidentally found to have electrocardiographic abnormalities. His echocardiogram demonstrated mild dilatation of the left ventricle and poor contractility. Cardiac histopathology indicated hypertrophic cardiomyopathy. Later he developed muscle weakness in the right arm. Scapular winging and asymmetrical facial weakness were evident. Muscle biopsy at the age of 44 years showed myopathic changes consistent with FSHD. His daughter had symptoms of infantile FSHD, which was genetically confirmed. This is the first report of an FSHD patient with biopsy-proven cardiomyopathy."
Saturday, June 19, 2010
Gene Therapy Shows Promise
Scientists have succeeded in using gene therapy to restore some muscle function in patients with a certain type of muscular dystrophy.
“This study provides additional information regarding the feasibility of gene therapy for the treatment of muscular dystrophy,” said Dr. Valerie Cwik, executive vice president and research and medical director of the Muscular Dystrophy Association, which helped fund the research. “Specifically, it provides proof of principle, in people, for sustained gene expression [for at least six months] following treatment.”
This is the first time such a feat has been performed in humans, state the authors, who are presenting their findings at the annual meeting of the American Society of Gene & Cell Therapy in Washington, D.C.
(for more information, read the complete article)
Tuesday, June 8, 2010
genetic and epigenetic face of Facioscapulohumeral muscular dystrophy
Silvère van der Maarel, PhD, Prof.
Autosomal dominant Facioscapulohumeral Muscular Dystrophy (FSHD) is the second most common myopathy in adults. FSHD is mainly characterized by progressive and often asymmetric weakness and wasting of the facial, shoulder and upper arm muscles. During disease progression, also other muscles may become affected. Frequently reported non-muscular symptoms include sensorineural deafness and retinovasculopathy, although these symptoms often go unnoticed. Genetically, FSHD is associated with a contraction of the D4Z4 macrosatellite repeat in the chromosome 4q subtelomere in the large majority of patients. In healthy individuals this polymorphic repeat varies between 11-100 D4Z4 units, each unit being 3,3kb in size. Patients with FSHD typically carry one allele with a D4Z4 repeat of 1-10 units.
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