Neuropathy, hereditary motor and sensory, Russe type
Type of disease: Rare conditions
Russe type hereditary motor and sensory neuropathy 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. The first symptom of this condition is loss of muscle mass and strength, causing walking difficulties, usually around 8 to 16 years old. Later in life, between 10 to 43 years old, those affected usually develop muscle shrinking and weakness in their arms. The limbs of the body also lose the ability to feel sensations like touch, pressure, and temperature. Most individuals also have hand and foot deformities as a result of this condition. Those affected have trouble walking and moving their bodies normally and may require the use of a wheelchair.
This disorder is due to a mutation in the HK1 gene and is inherited in an autosomal recessive manner which means an individual with this condition has a mutation in both copies of their HK1 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 carriers each of their children has a 25% or 1 in 4 chance of having the condition. This form of neuropathy has mainly been observed in European Gypsy populations.
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 Russe type hereditary motor and sensory neuropathy but treatments are available to help manage symptoms and improve quality of life. If you or a family member has been diagnosed with Russe type hereditary motor and sensory neuropathy, talk with your doctor about current treatment options.