Charcot-Marie-Tooth Disease

I don't know if you know about Charcot-Marie-Tooth Disease. This disease is also called hereditary motor sensory neuropathy. The most obvious cause of the disease is genetic factors. The clinical symptoms are muscle weakness and atrophy. In the early stages of the disease, the feet will become weak, numb, and inflexible, and then the symptoms of Charcot-Marie-Tooth Disease will begin to appear.

Most people may not know much about Charcot-Marie-Tooth Disease. Compared with some other common diseases, this disease is rare. Sometimes even if some symptoms appear, we don’t know what is going on. We cannot make a timely diagnosis, which is not conducive to the treatment of the disease.

Charcot-Marie-Tooth Disease - Clinical Presentation

In the early stages of Charcot-Marie-Tooth Disease, the feet are weak, immobile, and numb. The peroneal muscles begin to atrophy and then gradually spread to the interosseous muscles and calf flexors, and finally to the lower 1/3 of the thigh muscles, but the upper part is completely normal, forming a "crane leg" or inverted wine bottle-like deformity. Atrophied muscles may have fasciculations. The Achilles tendon reflex weakens or disappears early. Due to weak dorsiflexion of the foot, the foot often presents with equinovarus deformity.

In the later stage, the interosseous muscles, thenar and hypothenar muscles of the hand atrophy, forming an ape hand deformity. But the atrophy usually does not exceed above the elbow joint. The distal extremities show sheath-like sensory loss, often with neurotrophic disorders such as swelling, cyanosis, and ulcers. Optic atrophy, pupil changes, nystagmus and trigeminal neuralgia are occasionally seen.

Charcot-Marie-Tooth Disease - Disease Diagnosis

A patient with Charcot-Marie-Tooth disease climbed a height of 186 meters. 1. The disease usually develops insidiously during adolescence, is more common in males, and has more severe symptoms.

2. In the early stage of the disease, the feet are weak, immobile, and numb. The peroneal muscles begin to atrophy, and then gradually spread to the interosseous muscles and calf flexors, and finally affect the lower 1/3 of the thigh muscles, but the upper part is completely normal, forming a "crane leg" or inverted wine bottle-like deformity. Atrophied muscles may have fasciculations. The Achilles tendon reflex weakens or disappears early. Due to weak dorsiflexion of the foot, the foot often presents with equinovarus deformity.

3. In the later stage, the interosseous muscles, thenar and hypothenar muscles of the hand will atrophy, forming an ape hand deformity. But the atrophy usually does not exceed above the elbow joint.

4. The distal extremities show sheath-like sensory loss, often with neurotrophic disorders such as swelling, cyanosis, and ulcers. Optic atrophy, pupil changes, nystagmus and trigeminal neuralgia are occasionally seen.

5. The electromyogram shows neurogenic combined with myogenic changes, and there may be a slowing of motor and sensory conduction velocity.

6. There may be similar patients or cavus feet among family members.

7. Spinal muscular atrophy, distal muscular dystrophy and myotonic dystrophy need to be ruled out early.

For diseases like Charcot-Marie-Tooth Disease, the most important thing is to seek timely treatment when you discover some abnormal symptoms in your body. If you can get treatment as early as possible, some diseases can be cured well. Generally, Charcot-Marie-Tooth Disease is caused by genetics. If a family member suffers from this disease, you must take preventive measures in advance.