Is Charcot Marie Tooth Disease Painful?
Charcot marie tooth disease can present as muscle wasting, atrophy, trophic ulcers, non-healing lesions, bony deformities, etc. Pes cavus is the most commonly associated bone deformity found in Charcot Marie tooth disease. These can lead to the experience of pain which could be of two types, the physical pain, and the neuropathic pain.
The physical pain results from the ulcers and superadded infections, bony deformities, etc. Neuropathic pain occurs due to the damage of nerve fibers specially belonging to sensory nerves which can be demyelinating or axonal degeneration in case of Charcot Marie tooth disease. The neuropathic pain can be sometimes perceived as phantom pain due to the damaged nerve endings sending impulses to the pathway without a physical symptom.
To relieve physical pain, the group of non-steroidal anti-inflammatory drugs is the drug of choice. These have anti-inflammatory, antipyretic and analgesic action which not only relieves the pain but also improve the systemic symptoms. It decreases the synthesis of prostaglandins in the body in response to inflammation by inhibiting the cyclooxygenase enzyme responsible for the production of prostaglandins. Antibiotic group of drugs can also be prescribed by the doctor to prevent the superadded infections on the already present ulcers.
For relieving the neuropathic pain there are many groups of drugs which can be used effectively. Individual therapy is considered because the use and efficacy of the drug depend upon each patient’s metabolism. Tricyclic antidepressants such as amitriptyline, nortriptyline, dothiepin, amoxapine, etc are the most commonly used drugs in neuropathic pain. Another group of drugs includes anticonvulsants like pregabalin, gabapentin and opioid analgesics like morphine, etc. can be used in severe cases of neuropathic pain in Charcot Marie tooth disease. Central muscle relaxants and neuromuscular inhibitors like botulinum, baclofen, etc. can also be used.(1)
Can CMT Skip A Generation?
Charcot Marie tooth disease follows an autosomal dominant type of inheritance pattern for the propagation of the disease to successive generations. Type 1 and type 2 belong to this category and are found in the successive generation with a probability of about 50 to 75% depending upon the dominant alleles present if anyone parent is suffering from the disease. If both the parents her suffering from the disease, the chances of propagation of disease ranges from 75 to 100% and also increases the severity of the disease in the offsprings.
But it is possible that the Charcot Marie tooth disease can skip a generation without affecting any of the offspring and then presenting again in the subsequent generations. Type 3 and type 4 along with some subtypes of type 1 and type 2 follows an autosomal recessive type of inheritance pattern. In this inheritance, the disease propagation is not found in successive generations at every instant and occurs more likely if both the parents are affected with the disease. The accumulation of two recessive alleles is necessary to cause disease in this pattern which could decrease the probability of transmission and after one generation the person marrying with another person carrying recessive allele can lead to transmission of disease in the next generation. Few cases of X-linked recessive inheritance pattern are also found in subtypes of type 1 and type 2 Charcot Marie tooth diseases.(1)
Charcot Marie tooth disease is a sensorimotor neuropathy presenting itself in the first decade and continuing for a lifetime due to its slow progression and incurable nature. It is a painful condition with physical and neuropathic pain as its components. Only symptomatic treatment for the pain can be given with the help of medications and sometimes surgical interventions.
It is quite possible that Charcot Marie tooth disease can also skip a generation like in case of only one parent affected with the disease with a single dominant allele marrying with the unaffected person. Autosomal recessive and x-linked recessive inheritance patterns are also seen in few subtypes and are primarily responsible for the case seen with skipping of generations without suffering from the disease.