Discussions By Condition: I cannot get a diagnosis.

Muscle Weakness with severe pain, leukoencephalopathy, and more

Posted In: I cannot get a diagnosis. 2 Replies
  • Posted By: Anonymous
  • August 9, 2010
  • 03:43 AM

I'm 20 years old, and I've been having progressively worse health problems since I was 15. I've seen a number of specialists, but the only thing they've agreed on is that it isn't psychosomatic; none have been able to make a diagnosis. Listed below are my symptoms.

Autism spectrum disorder possible, schizoid personality disorder possible. Psychologist isn't sure how she would like to classify it.
Treatment-resistant depression.
Severe myalgia.
Abdominal pain accompanied by gastrointestinal disturbance. Tar black diarrhea, comes fairly rarely (once every 2-3 weeks maybe.)
Skin lesions on the back, thighs, and shoulders. I originally attributed it to acne, but I don't think it's that any longer. I typically have ~2 dozen open sores at a time, 25-100 mm in diameter. Heavy scarring. Skin in these areas is also very scaly, despite daily moisturizer.
Cough producing expectorant. The mucus occasionally has blood, and is either green or clear. Originally diagnosed as asthma, asthma medication didn't help.
Insomnia and hypersomnia; it takes me 4 hours sometimes to fall asleep, but once I'm asleep, I can be out for 18 hours; usually about 12. Polysomnagram was inconclusive because I didn't fall asleep in the sleep lab, insurance won't pay for another.
Progressive muscle fatigue.
Tremor in the hands.
Clubbed fingernails.
Bilateral upper eyelid ptosis, more pronounced on the left side.
Bilateral non-synchronous opthalmoparesis. If I look out the left eye the right wanders off, if I look out the right eye the left wanders off and up. Neuro-opthamalogist has seen no progression/variation in the eye since I began seeing him June 2009.
Exercise Intolerance, to the point of passing out after hyperventilation and air hunger. Climbing a flight of stairs is enough to make it feel like my throat is collapsing. I rode my bike at one point approximately 2 city blocks before passing out and falling.
Diagnosis predating the muscle weakness was possible Multiple Sclerosis based on a small number of diffuse white matter lesions on an MRI. No progression of lesions, scattering of lesions not typical of MS, and no proteins in CSF at 6 month intervals for 2 years suggest that this isn't the problem.

Original diagnosis was myaesthenia gravis, genetic test came back negative but it often does in positive cases. Mestinon showed little to no improvement (my sister commented that I seemed to be drooping less, but no measurable difference by neuro-opthamalogist.) Single fiber emg revealed increased lag following exertion, suggestive of a neuromuscular junction problem. Prednisone started, up to 100 mg (unpleasant.) No change. Chest
CT showed no masses in the lungs, no thymoma.
Second diagnosis of mitochondrial disease. Genetic test negative for MERRF, MELAS. No test preformed for Kearns Sayre. Bloodwork revealed no lactic acidosis, muscle biopsy showed no RRF. Personal phenotype is also inconsistent with mitochondrial disease (people who are 6'5 rarely have diseases whose primary pathologies involve short stature.)
Third diagnosis of muscular dystrophy. Long shot as almost all MD cases spare the ocular muscles, normal CPK levels almost completely rule it out. Carnitine deficiency is unlikely because I continue to have muscle problems even without exercise.
Further tests: not Wilson's Disease, not thyroid disease. Urine showed high levels of proteins, doctor thinks that the muscle pain might be rhabdomyalgia.


If anyone has any suggestions, I'd love to hear them.

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