unknown neurological condition

[worriedmummy25]

hi, im a 25 year old with many neurological symptoms.  I have been told that i have a definate progressive neurological condition.  im pretty concerned as have a wide variety of symptoms...it seems to be hard to get a diagnosis although i have been advised that my condition is likely to be hereditory.  I have muscle wasting that is very typical of charcot marie tooth disease, pes cavus and wasted muscles.  I also have weak arms and am developing curled fingers,again typical of cmt....however, i have additional symptoms such as  spasticity and hyperreflexia of all limbs, worse in my legs...i know spasticity and hyperreflexia is not found in cmt...my neurologist is looking at hereditory spastic paraplegia or inherited ataxias  as a possible diagnosis...but nothing seems to fit 100%...i must add that i really respect his opinion, he is an excellent neurologist.  It  seems that i have both upper and lower motor neuron signs which is troubling me....as these conditions rarely cause upper and lowere motor neuron signs.  has anyone here got experience of anything similar? Thanks x

[Dr Sharma]

Hello dear and welcome to the medhelp forum. These symptoms you mentioned suggestive of both upper and lower motor symptoms and signs. Motor neuron disease or ALS symptoms may involve arms, hands, legs and swallowing muscles. Muscle weakness and atrophy, spasticity, muscle cramps are seen. In its worst form, diaphragm and chest wall muscles may get affected. Discuss with your neurologist, he would like to investigate with electromyography, nerve conduction velocity study, other baseline blood and urine investigations including creatine kinase levels to check for muscle dystrophy. An MRI to assess the upper motor neurons function may also be done. You may be prescribed muscle relaxants to relieve spastic muscles, physical and occupational therapy to improve posture and assistive devices if required. I wish you all the best and you are welcome with any further queries.

[tschock]

You are on the same boat as us.
We have been diagnosed with everything from MD to MS and everything in between.
My entire family has been seeing geneticists for a few years now, and they are at a loss as to what is going on. They have found another family ( living in Japan ) who has the same symptoms.  They figure it's some form of Muscular Dystrophy that has yet to be named.

Ask your doctor to set you up with a geneticist ( if you haven't seen one already ). The more people that step forward, the better. Perhaps they will eventually figure all of this out.

I find that going to a massage therapist helps a bit. There are many new techniques that some of them use, and it gets the body going again.