Neuropathy motor sensory type 2 deafness mental retardation
Type of disease: Rare conditions
Type 2 motor sensory neuropathy with deafness and mental disabilities is a genetic disorder that affects the nerves and muscles. This condition can also sometimes be called HMSN-II, a form of Charcot-Marie-Tooth Disease. Individuals affected have difficulties feeling outside signals in their legs and arms. They may have difficulty walking and performing other movements. This type of neuropathy may also lead to mental disabilities and deafness. Sometimes in these cases, speech never develops. This disease normally begins in infancy and is more severe in boys than in girls.
The gene involved in this type of neuropathy is the GJB1 gene. This disorder is an X-linked recessive disorder. Females have two X chromosomes, XX. Males have one X chromosome and one Y chromosome, XY. It is recessive which means for a female to have the condition, both of the X chromosomes must have the mutation. For males to get the disease they just need the one mutated X since they only have one. This type of the disorder has only been seen in one family in the South Africa region.
Diagnosis is found by looking at past family history with this disease. Physical tests may also be used to diagnose mental disabilities and deafness. Treatment depends on the severity of the case, but may involve family history, physical exams, and DNA testing. If you or a family member has been diagnosed with type 2 motor sensory neuropathy with deafness and mental disabilities, talk with your doctor about the most current treatment options. Support groups are also good resources of support and information.