Undiagnosed Neuromuscular Disorder: Searching for Answers
Hi, I am a 29 yr old female with an undiagnosed neuromuscular disorder, and hoping to find suggestions on a diagnosis. in 2016 I began to have tingling/numbness in the medial aspect of my L foot. Over the past few years, the numbness/tingling has progressed to include my left leg, left hand/arm, L side of lower face, and recently has began in the same pattern in my R foot/lower leg and R hand. This last year my symptoms have progressed significantly. I have also moved in the past year from Ohio/PA area to North Carolina. I am heat intolerant and sweat excessively. My symptoms now include nerve pain down both my legs (mostly posterior), muscle fasciculations, muscle cramps with activity, weakness with activity (L foot drop and L quad weakness with cardio), decreased fine motor control/dexterity in both hands L>R, daily headaches (I wake up with them), daily fatigue, difficulty staying asleep, dizziness with transitional movement, syncope, and sensitivity to deep pressure to my skin. When I have a syncopal episode, it starts with a pressure in my mid-thoracic spine, the pressure goes up my spine and takes over my head, then I pass out. I also feel like I am losing hearing in my left ear. it constantly feels "plugged" and like I am hearing underwater. My short term memory has declined and I am constantly searching for words. My heat rate is typically above 100bpm.
Here are the tests and results my neurologist has ran:
EMG to L arm/leg: Diffuse myotonia
MRI of brain: pineal gland cyst (which I've had since childhood), otherwise normal
MRI of cervical spine: C5-C6 shallow disc bulge, otherwise normal
Skin biopsy: showed mild degenerative changes in the small fiber nerves, indicative of future neuropathy. My neurologist said he considers this a normal result
Autoimmune panel: Normal
Myositis Panel: Normal
Genetic testing (pending): testing for myotonia congenita and paramyotonia congenita
Orthostatic testing: normal
I am currently on Cymbalta for nerve pain. I am seeing OT for my hands and having dry needling at PT for my headaches. My neurologist also referred me to psych to rule out anxiety as some of my symptoms. My psychologist stated she does not think my symptoms are psychosomatic, but I am going through therapy anyway to deal with the frustration of not having an answer for my symptoms. My neurologist said that even if my genetic testing comes back positive, it would not explain my sensory symptoms. I also wear compression stockings (especially at night) which helps decrease the tingling and pain in my legs.
Thank You in advance for reading my story, I am open to all suggestions!