Muscular dysplasia

Introduction Muscular dysplasia is a group of muscle diseases that are more common in skeletal muscle diseases, including periodic paralysis, polymyositis, progressive muscular dystrophy, myotonic dystrophy, and mitochondrial myopathy.

Cause

1, abnormal muscle cell membrane potential: such as periodic paralysis, myotonic dystrophy and congenital myotonia.

2, energy metabolism disorders: such as mitochondrial myopathy, lipid metabolic myopathy and glycogen accumulation disease, etc. affect muscle energy metabolism and incidence.

3, abnormal muscle cell structure: such as various muscular dystrophy, congenital myopathy, endocrine myopathy, inflammatory myopathy and ischemic diseases.

an examination

Related inspection

CT examination of serum creatinine (Cr, Crea) electromyography CT examination neostigmine test

First, clinical symptoms

1. Muscle atrophy.

2. Muscle weakness refers to a decrease in skeletal muscle strength. Muscle weakness and muscle weakness caused by neuromuscular joint disease are generally bilaterally symmetrical, and the extent of involvement often cannot be resolved by a certain group or a certain nerve damage.

3, intolerance fatigue refers to the reduction of the amount of exercise load to achieve fatigue, walking a short distance that produces fatigue, rest can be alleviated. Found in myasthenia gravis, mitochondrial myopathy, lipid deposition myopathy.

4, muscle hypertrophy and pseudo-hypertrophy refers to pathological hypertrophy. Patients with congenital myotonia can be accompanied by muscle hypertrophy, but muscle strength is weakened. Duchenne muscular dystrophy may have muscle hypertrophy such as gastrocnemius muscle, which is caused by the reactive hyperplasia of fat and connective tissue caused by the destruction of muscle fibers, so it is called pseudohypertrophy. Acromegaly early hypertrophy, advanced muscle atrophy. Congenital partial hypertrophy is mainly manifested as one side of the face hypertrophy, or one side of the face is hypertrophy in the same side.

5, muscle pain and muscle tenderness are the most common inflammatory myopathy.

6, muscle rigidity is seen in congenital myotonia, tonic malnutrition.

7, muscle involuntary movement refers to the muscle involuntarily contracted and twitched at rest. These include fasciculation, muscle fibrillation, and muscle twitching.

Second, combined physical examination

Third, imaging and laboratory testing

Electromyography, repetitive nerve electrical stimulation (PNES), single fiber electromyography, AChR antibody titer detection and other related tests, and even Jolly test, anticholinergic drug test, etc. can further define the cause.

Differential diagnosis

The muscles of the scapula are underdeveloped: the symptoms and clinical manifestations of the anterior scalene syndrome. The group of anterior scalene muscles occurs in middle-aged people, more women than men, and the right side is more than the left side. The patient generally has muscles that are sagging shoulders and shoulder straps. The symptoms vary depending on the tissue being compressed.

Muscle atrophy refers to the reduction of muscle volume caused by dystrophic dystrophy, muscle fiber thinning or even disappearance. Muscle atrophy is often accompanied by low muscle strength, so you should pay attention to the comparison of muscle volume and muscle strength, pay attention to muscle strength and muscle tension in muscle atrophy. The inspection should be carried out in a warm environment and in a comfortable position. Patients should be allowed to relax as much as possible. It can be judged by touching the hardness of the muscle and the resistance that is felt when the patient's limb is flexibly flexed. When the muscle tension is reduced, the muscles are slack, the resistance is reduced or disappeared during passive exercise, and the range of motion of the joint is enlarged. More common in lower motor neuron lesions, some myopathy such as disuse muscle atrophy.

Muscle induration: is a chronic, repeated accumulation of microscopic damage. It often occurs in areas with excessive muscle activity or persistent muscle tension in static posture. Can be divided into two categories of acute and chronic. Common parts are the muscles of the waist, neck and legs. Muscle weakness, fatigue, soreness, local tenderness, limited range of activity, decreased labor capacity, followed by persistent pain, soreness, muscle induration, dysfunction, etc.

Muscle necrosis refers to the condition that the muscle is over-squeezed by external force or affected by other factors, causing the muscle to lose the ability to absorb nutrients, resulting in muscle infection, decay, and eventually necrosis. Generally manifested as a series of inflammatory reactions such as pain, swelling, redness and fever in muscle necrosis. There may also be dysfunctions.

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