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
  : clinical exam are the current means of diagnosis.  Sorry, I can be of better help with the information you wanted.
  : Sincerely,
  : CCF Neuro[P] MD, RPS  
  There was a muscle biopsy done. One lab identfied it as central core disease another lab  "skeletal muscle with moderately severe abnormalities probably neurogenic"  Lab test come back with high uric acid, mildly elevated ck(250-400),severe cervical stenosis, mild lumbar stenosis and mild thoracic scoliosis,  clinical exam notes benigh fasiculations, essential tremor, and some balance problems. We've never been able to get a definative dx. I should have mentioned we did find a lab for SMBA but my primary physician hoped there might be some new test to identify a primary cause as he believes these are not independant, stand alone outcomes. Is there any place you could suggest where we might be able to check if such test do become available?
  Thanks  
  MDB
Dear MDB:
I would try the MDA foundation internet site to get started.  As I work in the MDA clinic here in Cleveland, I am very impressed on how well the foundation keeps updated on new findings.  I think the best think is to contact either the website or local MDA chapter about your issues (I would try both).  Good luck.
Sincerely,
CCF Neuro[P] MD