Hereditary motor and sensory neuropathy LOM type also known as Charcot-Marie Tooth disease type 4D, is a genetic disorder that causes peripheral neuropathy. Neuropathy means that the nerves that control the muscles of the body do not work properly. In this case, peripheral neuropathy means an individual's nerves cannot control the muscles of their hands, feet, arms and legs. This signs of this condition generally begin to appear between 4-10 years old. Children have difficulty walking properly, fall or trip more than usual, and become easily tired. Loss of hand control is another common symptom and almost all individuals develop hearing loss between 15 and 30 years of age.
This disorder is caused by a mutation in the NDRG1 gene. This disorder is passed on in an autosomal recessive manner, which means an individual with this condition has a mutation in both copies of their NDRG1 gene. If a person has only one mutation they are called a carrier because they "carry" a mutated copy but are not affected. If both parents are carries each of their children has a 25% or 1 in 4 chance of having the condition. This disorder has only been seen in the Romani Gypsy community in Europe.
Diagnosis is based on looking at family history and testing muscle sensitivity. Physical tests are performed to see if the muscles react to stimulus, like being touched and how quickly signals are carried by a nerve to a muscle, known as nerve conduction velocities.
There is no cure for hereditary motor and sensory neuropathy LOM type. Treatments are available to help manage symptoms and improve quality of life. If you or a family member has been diagnosed with hereditary motor and sensory neuropathy LOM type, talk with your doctor about available supportive therapies. Support groups are also good resources of support and information.
Description Last Updated: Jan 27, 2018