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Questions posted in the
Neurology and Neurosurgery Forum have been answered by doctors from The Cleveland Clinic Foundation.
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Subject: Re: DNA test for limb girdle disease My doctor sent me to the local hospital to get a dna test for limb girdle disease and for center cores disease the head of the lab was sure these test existed but was unaware as to wwho might do them. My question is there such test ? If so do you know a place that does them? Thanks, MDB Dear MDB: Sorry to hear about your health problems. As far as I know, there is no definite DNA test for limb girdle disease. The usual concern is differentiating from Becker's. There is a DNA test for Becker's, and this can be sent to Boston Universtiy, Center for Human Genetics. The problem is that we think Limb-girdle musclualr dystrophy is not a single entity, and at least eight different genetic defects have been identified. There is a autosomal dominant and recessive type of Limb-girdle. The defects have been found on chromosome 1,5 for the autosomal dominant type, and chomosomees 2, 4, 5,13, 15, and 17 for the autosomal recessive type. Furthermore there are two types that the chromsomal defect has not been found. A muscle biopsy, lab findings, and clinical findings are the usual way to diagnose this entity. Center core disease, although some forms are associated with a ion channel defect, as far as I am aware there is not commerical DNA test available. Again, the muscle biopsy, basic lab values, and Sincerely, CCF Neuro[P] MD, RPS |
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