I am losing muscles all over my body. The leg muscles are weaker than the arms. The muscle wasting is going on without any pain. It all started in 1983 (18 years old weighing 130lb) when I felt tightness in the leg and arm muscles. Around same time, I noticed heavy hair loss. I started limping in 1986. Doctors mostly recommended B-12 syrups and injections.
In September 1990, after doing heavy exercise, I found my proximal leg muscle structure has completely broken down (The muscles flowed like water towards knee). I could not walk more than few feet. But, I recovered in about a month. Right after this incident, there was MRI and biopsy done by Baylor University (Biopsy report typed below). The blood CPK was extremely high at 20000.
But, the specific muscular disorder has not been diagnosed. I am 36 years old weighing about 100 lb. I barely can walk now. About 40% of muscles left on the leg and arms.
Though I have accepted a shorter life now, I am wondering if this disease could be identified and the muscle necrotic process could be reversed.
In a side note, nobody in my family or in the maternal family have any such disease.
Please HELP!! Does biopsy anyway indicates if it is a viral infection??
-Mukti
****** BIOPSY report (Baylor University, Dallas, TX) *****
Paraffin embedded and frozen sections of the left proximal thigh muscle biopsy demonstrate variability is myofiber size with fibers ranging from 10-90 microns in diameter. Numerous necrotic fibers are present and are undergoing myophagocytosis. Rare regenerating fibers are present. There is internalization of nuclei and several split fibers are also seen. No increased connective tissue, inflammation or vasculitis is identified. A histochemical screen is done to include trichrome, NADH, acid phophatase. nonspecific esterase, Oil Red O, phosphorylase, phosphofructokinase and ATPase stains at pH 4.2, 4.5, and 9.4. No significant fibrosis or inclusions are identified on trichrome stains. NADH stains demonstrate isolated fibers with myofibrillar disarray. The necrotic fibers show increased activity with acid phosphatase and nonspecific esterase. There is mild increase in lipid in type I myofibers. Phosphofructokinase and phosphorylase activities are present. ATPase strains show atrophy of both fibers types with rare enclosed fibers present. Significant type grouping, however is not identified.
Electron microscopic examination reveals mildly increased amounts of glycogen. Clusters of myochondria and concentric laminated bodies are present.
In summary, the muscle shows a necrotizing myopathy. The pathologic changes are not specific and can be seen in a variety of disorders. The history of exercise intolerance and the presence of mild necrosis suggest metabolic disease. The slight increase in lipid and glycogen as well as presence of concentric laminated bodies suggest a storage disease of possibly glycogen or lipid.
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