What are the common symptoms of Charoneal Mustalk Disease?

Charoneal muscular atrophy is mainly manifested by motor, sensory, and autonomic symptoms, and motor symptoms are mainly manifested by muscle atrophy, which is characterized by muscle atrophy at the distal end of the limbs; The second is that it only affects the extensor muscles in the early stage and starts from the legs; third, the atrophy of the upper limbs does not involve the elbow joint and the upper third of the thigh; Fourth, cavus feet, scoliosis or clubfoot are often present; Sensory impairment is mainly sensory impairment of peripheral nerves, and autonomic nerve symptoms are mainly manifested as local ** bruising, swelling, and ulceration.

Charoneal-muscular dystrophy is most commonly demyelinating and presents in late childhood or adolescence with symmetrical progressive degeneration of peripheral nerves leading to distal muscle atrophy. It begins with the feet and lower limbs, and can affect the hand and forearm muscles over a period of months to years. The extensor muscles such as the peroneal muscles are affected in the early stage, and the flexor muscles are basically normal, resulting in clubfoot and claw toe and hammer toe deformities.

Patients often have cavus feet and scoliosis, walk with a step-over gait, and calf muscle weakness and atrophy may resemble "crane legs". Charoneal-muscular atrophy progresses slowly, is fixed for long periods of time, has normal cerebrospinal fluid, and in a few cases has elevated protein levels.

(1) Causes of the disease.

The disease is mainly caused by genetic factors, CMT1 and CMT2 are autosomal dominant inheritance, and there may be sporadic cases.

The causative gene of CMT1A is located in the nuclear gene encoding peripheral nerve myelin protein 22 (PMP22), and the repeated mutation of the PMP22 gene leads to overexpression and increases the PMP22 protein. A small number of patients are affected by abnormal PMP22 protein due to PMP22 gene mutations.

CMT2 type: CMT2A gene is mapped to chromosome 1p35-36, CMT2B is mapped to 3q13-22, CMT2C is mapped to 5q, CMT2D is mapped to 7p14, CMT2E is mapped to 8p21, and CMT also has X-linked dominant (CMTX) chromosomal recessive (CMT4) mode.

2) Pathogenesis.

1.Genetic mode.

1) CMT type: can be autosomal dominant, recessive and X-linked dominant or recessive inheritance, recent studies have shown that CMT type is divided into type A, type B and type C, CMT type A is the most common (56% 60%), caused by PMP-22 gene mutation on autosomal body, CMT type B is rare (30%), pathological gene in Q21-23, related to myelin P0 (MPZ) gene mutation, type C pathological gene is still unknown, X-linked pathological gene in XQ13-1.

2) CMT type: there are 3 types of inheritance, usually autosomal dominant, recessive and X-linked inheritance, the normochromic dominant pathological gene of this disease is in p35-36, and the common recessive and X-linked pathological genes are unknown.

2.Pathological changes.

1) CMT type: the results of CMT type sural nerve biopsy are mainly large, the number of medium-diameter fibers is significantly reduced, intrafascicular collagen hyperplasia, with age, the density of myelinated fibers progressively decreases, demyelination is aggravated, due to the recurrent segmental demyelination and the enhancement of the remyelination regeneration process, Schwann cell hyperplasia and endoneurial components form a concentric circle-like "onion ball" structure around the axon, and the posterior spinal cord is degenerated, in which the thin bundle is more obvious than the wedge bundle.

2) CMT type: CMT type sural neuropathology is mainly axonal degeneration, and in patients with no significant demyelination, Schwann cell hyperplasia is a "onion ball" and rare.

The disease often has swelling, cyanosis, ulcers and other neurotrophic disorders, occasionally optic nerve atrophy, pupil changes, nystagmus and trigeminal neuralgia, later interosseous muscles of the hand, atrophy of the major and small thenar muscles, the formation of ape hand deformity, but the atrophy generally does not exceed the elbow joint, the injury of the leg first starts from the gastrocnemius muscle, and then gradually expands to the interosseous muscles, calf flexors, and finally involves the lower thigh 1 3 muscles, but its upper part is completely normal, forming a "crane leg" or inverted bottle-like deformity, and the atrophic muscles may have fasciculations, The Achilles tendon reflex is weakened or absent early, and the clubway deformity is often manifested due to weakness of foot dorsiflexion.

Charoneal muscle atrophy is a relatively rare congenital genetic disorder. Patients will gradually develop muscle weakness, motor dysfunction, and sensory dysfunction.

Because some patients experience atrophy of the muscles of the extremities, patients often have a decrease in motor function, which may increase the risk of trauma, falls, falls, and fractures. Other patients may also have swallowing dysfunction, usually due to atrophy of the swallowing muscles. Therefore, patients are prone to aspiration, which can lead to pneumonia.

Patients with Charoneal muscular dystrophy need to be actively exercised.