Please help

[Nicky151179]

Hi everyone my symptoms started just over a year ago now and I've been to two neurologists but they are still baffled as to what I have.my symptoms began as feeling really really fatigued which was unusual and nausea,I went to doctor and he said it was ok I continued to feel worse then I noticed my face was beginning to droop both sides which progressively got worse along with atrophy in temples,eyelid droop,flaccid musckes face and body along with a lot of twitching when muscles are in use.i get twitching all over and people notice my facial twitching a lot,I have also lost muscle tone in arms and legs constantly pins and needles in hands and feet.they have tested me for ms,had lyme test,thyroid,lumbar punch,MRI of head and emg(which went for a short 10 minutes,also ck levels checked and checked for mg also all tests normal so they are baffled to figure out what this is and are watching progression and will re do tests later.have any of you had normal results to begin with and been diagnosed with als later?and do my symptoms sound like als? Your replies would be great as I am a mother with four children and I'm 33 I'm getting sicker all the time and the muscle loss is scary my face is a lot different then 12 months ago I also suffer from muscle jerks especially at rest and my tremors are bad.i also get very itchy and a rash on on my upper chest.i get constant leg twitches now and my neck hurts.i have an appointment coming up with neuromuscular specialist my doc think lower motor neurone as my forehead hasn't been spared it has wasted too.im really frightened and its so hard watching my body health and face change and get disfigured.i feel like giving up for answers as its only pointing to als can someone please tell me if this is familiar and if any of you with bullbar onset had same facial changes flaccid muscle,sunken temples,loss of muscle tone,droopy eyelids,fallen neck muscle under chin.anyone with als diagnosis please help and tell me if this sounds like you

 

[vickim]

I am not a dr but it doesn't sound like als. I have mitochondrial myopathy, you should look up the MDA website and look there. This is one of the mito diseases

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)

Onset: Usually before age 20

Symptoms: This disorder causes PEO, ptosis (droopy eyelids), limb weakness and gastrointestinal (digestive) problems, including chronic diarrhea and abdominal pain. Another common symptom is peripheral neuropathy (a malfunction of the nerves that can lead to sensory impairment and muscle weakness

 

[Nicky151179]

Hi vickie thx u for replying I'm so terrified do u have the same symptoms as me and do you have the same facial problems,I'm not handling disfigurement.is it treatable and weakness and loss if muscle tone reversible or is damage dine

 

[Nicky151179]

Also isn't this disease inherited none of my family have this

 

[Nicky151179]

Also I'm having ear pain

 

[vickim]

None of my family have this either. I have weaknes s in my arms, legs, shoulders, hips, and neck. I have droopy eyelids. I have severe f atigue which I take meds for. I have neuropathy in my feet and use a cane. I got my answers from a muscle biops py.

A lot of this dis eases mim ic each other and they are hard to figure out. Time and patience is the norm. Try to relax anx iety makes things worse.