About charcot-marie-tooth roussy levy disease
What is charcot-marie-tooth roussy levy disease?
Roussy-Levy Syndrome, also known as hereditary areflexic dystasia, is a rare genetic neuromuscular disorder that typically becomes apparent during early childhood. The disorder is characterized by incoordination, poor judgment of movements (sensory ataxia), and absence of reflexes (areflexia) of the lower legs and, eventually, the hands; weakness and degeneration (atrophy) of muscles of the lower legs; abnormally high arches of the feet with the increased extension of the toes (pes cavus or "clawfoot"); and tremors of the hands. Many affected individuals also have an abnormal front-to-back and sideways curvature of the spine (kyphoscoliosis). In individuals with Roussy-Levy Syndrome, there is a failed communication of certain nerve signals to muscles of the lower legs (denervation). Roussy-Levy Syndrome is inherited as an autosomal dominant genetic trait.
What are the symptoms for charcot-marie-tooth roussy levy disease?
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 charcot-marie-tooth roussy levy disease?
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.
What are the treatments for charcot-marie-tooth roussy levy disease?
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 charcot-marie-tooth roussy levy disease?
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). Roussy-Lévy is a rare disorder that affects both sexes in equal numbers. Onset is during early childhood.
Is there a cure/medications for charcot-marie-tooth roussy levy disease?
A diverse collection of hereditary illnesses known as Charcot-marie-tooth roussy levy disease manifests as a chronic, progressive neuropathy that affects both the motor and sensory neurons.
The Charcot-marie-tooth roussy levy disease has no known cure and treatment. However, the condition usually advances gradually and has no impact on the projected life span. You can manage Charcot-marie-tooth roussy levy disease with some therapies.
Medications for Charcot-marie-tooth roussy levy disease
1. Pain from tooth disease may occasionally be brought on by muscular spasms or damaged nerves. If the pain bothers you, taking prescription painkillers may help to manage it.
2. Surgery: Corrective foot surgery may help relieve discomfort and enhance the ability to walk if foot abnormalities are severe. Surgery won't help with weakness or sensation loss.
3. Orthopedic devices: A lot of Charcot-marie-tooth roussy levy disease patients need the assistance of certain orthopedic equipment to maintain daily mobility and avoid harm. Walking and ascending stairs can be made more stable by wearing leg and ankle braces or splints.
4. The use of braces to address foot deformity or orthopedic foot surgery to restore the equilibrium of the damaged muscles are two possible treatments for Charcot-marie-tooth roussy levy disease. Patients and their families may benefit from genetic counseling. Other forms of treatment are supportive and symptomatic.
Weakness in legs, ankles and feet,High foot arches,Curled toes (hammertoes),Decreased ability to run,Difficulty lifting foot at the ankle (foot drop),Awkward or higher than normal step (gait),Frequent tripping or falling,Decreased sensation or a loss of feeling in legs and feet
Foot abnormalities,Difficulty in walking
Non-steroidal anti-inflammatory drugs (NSAIDs), such as ibuprofen, and antidepressants