Newbie here wondering if anyone knows about CMT

[Guest guest]

Is there something else my brother can do for this?

 

 

What is Charcot-Marie-Tooth Disorder?

Charcot-Marie-Tooth disorder (CMT) is an inherited neurological

disease characterized by a slowly progressive degeneration of the

muscles in the foot, lower leg, hand, and forearm, and a mild loss of

sensation in the limbs, fingers, and toes. The first sign of CMT is

generally a high arched foot or gait disturbances. Other symptoms of

the disorder may include foot bone abnormalities such as high arches

and hammer toes, problems with hand function and balance, occasional

lower leg and forearm muscle cramping, loss of some normal reflexes,

occasional partial sight and/or hearing loss, and, in some patients,

scoliosis (curvature of the spine). CMT is a disorder of genetic

heterogeneity, in which mutations in different genes can produce the

same clinical symptoms. In CMT, there are not only different genes

but different patterns of inheritance. The most common type, CMT1A,

is inherited in an autosomal dominant pattern. This means that if one

parent has CMT there is a 50 percent chance of passing the disease on

to each child. Other types are autosomal recessive or sex-linked CMT.

Each type is characterized by symptoms ranging from severe weakness

and wasting of leg and hand muscles to very mild symptoms or no

symptoms at all. Full expression of CMT's clinical symptoms generally

occurs by age 30. The more severe symptoms are related to an earlier

age of onset.

 

Is there any treatment?

 

 

There is no cure or specific treatment for CMT. Proper foot care

including custom-made shoes and leg braces may minimize discomfort

and increase function. Physical therapy and moderate activity are

often recommended to maintain muscle strength and endurance. For some

patients, surgery may be beneficial.