Charcot-Marie-Tooth disease consists of a group of disorders with progressive nerve degeneration causing difficulties in movement and sensation. Many types caused by gene mutations have been described and in some there is associated damage to the optic nerve. The type described here is associated with glaucoma, a condition in which elevated pressure in the eye causes damage to the optic nerve and can lead to blindness.
The type of Charcot-Marie-Tooth disease described here begins in the first decade of life with weakness in the legs and progression to involve the arms as well. In addition, there is loss of feeling in the limbs. Muscles may atrophy (loss of size) with time. Examination of nerves shows that the coating (myelin) is abnormal. Testing of nerves for their ability to carry electrical signals reveals that they are severely impaired. Affected individuals also may have an abnormally high pressure in the eye and they suffer severe damage to their optic nerves. This may occur in infancy or as juveniles.
The responsible gene mutation is transmitted as an autosomal recessive as evidenced by the fact that normal parents are sometimes related and the disease appears in a horizontal pattern without direct transmission from affected parent to child.
The disease can be diagnosed by neurological and eye examinations. No treatment is available for the nerve disease but many people have mild disease and can lead normal lives. Patients can be treated for disabilities with a multidisciplinary approach with prosthesis, orthopedic surgery, physical therapists, neurologists, etc. Glaucoma must be diagnosed early by an ophthalmologist before serious damage to the optic nerve has occurred. It may be difficult to treat but various eye drops and surgery might be beneficial.