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Don’t fight Charcot-Marie-Tooth disease type 1A alone.
Find your community on the free RareGuru App.Charcot-Marie-Tooth disease type 1A (CMT1A) is a type of inherited neurological disorder that affects the peripheral nerves. People with this disease experience weakness and wasting (atrophy) of the muscles of the lower legs beginning in adolescence; later they can also have hand weakness and sensory loss. In CMT1A, abnormal nerve conduction studies can be found in babies or toddlers, but the symptoms that are characteristic of the disease may not occur until 20 years of age or later. CMT1A is caused by having an extra copy (a duplication) of the PMP22 gene. It is inherited in an autosomal dominant manner. Treatment for this condition may include physical therapy; occupational therapy; braces and other orthopedic devices; orthopedic surgery; and pain medications. The severity and degree of disability varies very much among the affected people.
Source: GARD Last updated on 05-01-20
To know for certain, we recommend you to discuss your concerns with a neuromuscular disease specialist or a genetics professional. To find a specialist near you, we recommend that you contact your daughter's primary healthcare provider for a referral.
The following online resources can also help you find a professional in your community:
Last updated on 05-01-20
Usually, people with CMT1A are slow runners in childhood, can develop high arches and hammertoes and often require the use of braces for ankle support. They may have hand weakness, that appear about 10 years after foot and leg problems. Problems with balance because of ankle weakness and loss of proprioception (the brain’s ability to know where the limbs are in space) are common. Most patients (95 percent) remain ambulatory throughout their lives and life expectancy is normal.
Last updated on 05-01-20
CMT1A is inherited in an autosomal dominant manner. This means that having a change (mutation) in only one copy of the responsible gene in each cell is enough to cause features of the condition.
In some cases, an affected person inherits the mutated gene from an affected parent. In other cases, the mutation occurs for the first time in a person with no family history of the condition. This is called a de novo mutation.
When a person with a mutation that causes an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit that mutation.
Last updated on 05-01-20
Some people with Charcot-Marie-Tooth disease type 1A (CMT1A) do experience mild shaking or tremors of the hands. However, tremors commonly occur in normal individuals as well. Anxiety, fear, physical exhaustion, low blood sugar, thyroid disorders, caffeine, fever, alcohol, and certain drugs can all be involved in causing tremor.
Toe walking is not typically an early sign of CMT1A, rather more often it is a "slap foot gait" due to weakness in the lower legs (foot drop). Clumbsiness or frequent tripping are other early signs. As CMT1A progresses a person may develop tight heel cords. Children with tight heel cords often walk on their toes, however toe walking is a common habit among unaffected children as well.
Last updated on 05-01-20
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