10 April 1997

APPARENT PATIENT LOCATION:US

Help! My 10 yr old daughter has been clinically evaluated with an undiagnosable myopathy (proximal/hip-girdle muscle weakness with hypertrophied and hypotrophied muscle groups). Three years and countless tests have resulted in no firm diagnosis. Surgically repaired Tetralogy of Fallot heart condition at age 3.3 Here is what I know technically about our little girl: CBC (results high): Phosphorus (5.4), Creatinine (0.4), T-4 (11.2), Alkaline Phosphatase (175), SGPT (417), SGOT (239), CPK (7650-9700); Creatinine low, Carnitine free < ref value, Dystrophin Neutral and Acid Maltase levels unremarkable; EMG: Complex repetitive discharges (2+CRD), MUP low amplitude, suggestive of chronic myopathic process. Denervation changes. Biomed: Copper low in Cytochrome Oxidase; O2 consumption in Mitochondria increased above normal, nanoatoms of O2 per Cytochrome a3 is 0.77 Complex NADH-cyt C Reductase enzyme are high (1.986 umoles/min/g) Genetic: X-inactivation normal (known proteins ok, triple repeats negative, no family history of Muscular Dystrophy; Phenotype suggests Dystrophinopathy, but X-Inactivation tests did not document a protein abnormality. Negative manifestation carrier for Duchenne and Beckers Biopsy: Abnormal; mild focal inflammatory response, increase in both Endomysial and Perimysial connective tissue and fat. Abnormal amount of Polysaccharides or neutral fats. NADH-TR reaction shows granularity of degenerative and regenerative fibers (70% type I) Immuno: Immunoflourescence suggests only secondary protein deficiency due to all fibers variable versus 3 test proteins (Adhalin, Merosin, and Beta-Dystoglycan). Many more positive than negative fibers exist.

Top biomedical pharmacologists suggest there is nothing in the literature similar to this case (i.e. Michele is a unique test case). Thanks from Michele (in advance) to all who read this.