What is cmt4e?
Congenital hypomyelination neuropathy (CHN) is a neurological disorder present at birth. Major symptoms may include respiratory difficulty, muscle weakness and incoordination, poor muscle tone (neonatal hypotonia), absence of reflexes (areflexia), difficulty in walking (ataxia), and/or impaired abilities to feel or move part of the body.
What are the symptoms for cmt4e?
Difficulty walking symptom was found in the cmt4e condition
Symptoms of Roussy-Lévy Syndrome are similar to other hereditary motor sensory neuropathies in that there is Weakness and atrophy of the leg muscles with some loss of feeling. People with this syndrome have Difficulty walking and a lack of reflexes and deformity of the foot or feet (pes cavus). Roussy-Lévy differs, however, from other hereditary motor sensory neuropathies because of the very early onset of the disorder during childhood and its slowly progressive course. Roussy-Lévy also has as one of its characteristics a slight tremor in the hands.
What are the causes for cmt4e?
Roussy-Lévy is inherited through autosomal dominant genetic transmission. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed “dominating” the other normal gene and resulting in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50 percent for each pregnancy regardless of the sex of the resulting child.
Scientific evidence published in 1998 indicated that Rousy Lévy Syndrome appears to be a form of Charcot Marie Tooth Disease because it is caused by a partial duplication of the same gene that causes CMT (17p11.2).
What are the treatments for cmt4e?
Treatment of Roussy-Lévy Syndrome may include use of braces for the foot deformity or orthopedic surgery on the feet to correct the imbalance of the affected muscles. Genetic counseling may be of benefit to patients and their families. Other treatment is symptomatic and supportive.
What are the risk factors for cmt4e?
Roussy-Lévy is a rare disorder that affects both sexes in equal numbers. Onset is during early childhood.