u/JEs4

I got sick a few years ago. My latest visit summary from my neurologist is included word-for-word below. I saw cardiology yesterday and tilt table confirmed POTS as another new symptom.

The EKG also showed possible LVH thickening so I have an echo scheduled to rule that out.

I’m not really sure why I’m making this post but it’s been rough without a formal diagnosis, so it’s nice to have found a group that can relate. I was forced to ‘retire’ earlier this year too which hasn’t been super easy.

>36 year old man with history of ADHD, and pes planus and easy fatigue with exercise in childhood, who presents with ~2-3 years of muscle atrophy, arm weakness, occasional tripping/falls, dysphagia, increased sweating, and possible retinal abnormality. Examinations have been notable for bilateral scapular winging, mild bilateral UE postural tremor, frequent leg cramps, and difficulty releasing grip though in the setting of pain and brisk knee reflexes and distal LLE sensory loss. He has also developed abnormal tongue movements and has been evaluated by Dr. Forbes in movement disorders clinic with an unrevealing evaluation (normal CSF exam, negative Huntington's testing and negative Prevention movement disorders panel). Other lab work has been notable for mild CK elevation, mildly low TSH, and high B6 (now reportedly improved). NCS/EMG revealed chronic neurogenic changes in the right C7-8 innervated muscles, as could be referable to remote C7/8 radiculopathy and possible right-sided L2-4 radiculopathy. There was no evidence for myopathy. Genetic testing for neuromuscular disorders including that for FSHD1 and the Inviatae neuromuscular panel did not show any pathogenic mutations.
 
>Over the past 6 months he has had a notable decline with difficulty sitting upright due to fatigue and an associated increase in BP. Orthostatic VS today did were not consistent with orthostasis. He is currently undergoing evaluation for POTS with cardiology. Strength does appear better today with less pain limitation.