Neuromyotonia

Introduction to neuromuscular rigidity Neuromytonia is also known as Isaac syndrome, a name for continuous muscle fiber activity, myosism with impaired muscle relaxation (myoseism with impaired sandy relaxation). The disease is more common in adolescents, both men and women can be sick, some patients have a family genetic history, slow onset, progressive aggravation, characterized by visible shoulders, thighs, calf muscles involuntarily continuous vibration. Lighter people can reduce or disappear after sleep, and severe people can still appear in sleep. basic knowledge The proportion of illness: 0.003% Susceptible people: no special people Mode of infection: non-infectious Complications: difficulty swallowing

Cause of neuromuscular rigidity

Gene abnormalities (85%):

The cause of neuromuscular rigidity can be divided into congenital and acquired, and the latter is more common. Congenital neuromuscular rigidity is associated with voltage-gated potassium channel abnormalities encoded by the KCNA1 gene. Acquired neuromuscular rigidity is associated with the production of Anti-VGKCb autoantibodies against autonomic neuromuscular junctions, which also affects the normal function of potassium channels.

Pathogenesis:

There is a report of this disease with clear cell carcinoma of the right renal pelvis with cystic changes (Zhang Qingshan et al., 1997). In addition, some patients have thymoma, bronchial carcinoma and nasopharyngeal carcinoma, so this disease and paraneoplastic syndrome And autoimmune disorders may have a certain relationship.

Electromyography showed fibrillation potential, positive phase potential, and slowing of motor and sensory conduction. The use of botulinum toxin block the peripheral nerves to make myoelectric activity disappear.

In most patients, muscle and sural nerve biopsy showed normal. In some patients, muscle biopsy showed uneven muscle fiber size, angular fiber and muscle fiber hypertrophy, small group of muscle fiber atrophy, and increased nucleus. ATPase staining showed type I muscle fiber homogenization and II. Atrophy of the muscle fibers, suggesting neurogenic damage, reduction of myelinated fibers, segmental myelin loss, axonal degeneration and sprouting, Schwann cell proliferation and other changes in the sural nerve biopsy.

Neuromuscular rigidity prevention

The disease may have a certain relationship with paraneoplastic syndrome and autoimmune disorder, which may be caused by peripheral neuropathy of the proximal part of the neuromuscular junction caused by different causes. Therefore, the patient should be carefully and comprehensively examined to diagnose and treat related diseases.

Neuromuscular rigidity Complications, difficulty swallowing

Involving mouth, throat, face and respiratory muscles can cause difficulty swallowing and suffocation.

Neuromuscular tonic symptoms Common symptoms Muscle spasm pain Limb stiffness tremor muscle rigidity,... Involuntary tremor of limbs

Slow onset, progressive aggravation, characterized by visible shoulders, thighs, calf muscles involuntary continuous vibrating, sometimes slower, a few waves, called twitching, the above muscles continuously tremble, can last for several minutes to Hours, and occasionally can affect the mouth, throat, face and respiratory muscles, light can reduce or disappear after sleep, severe sleep can still occur, and second, after exercise limbs or repeated exercise, muscles turn stiff, sometimes muscles Sputum pain, usually lasts for a few minutes to several hours to relax, resembling muscle rigidity, but the muscle deduction does not appear muscle mound, called pseudo-muscle stiffness, after several years of development, due to the sustained contraction of the wrist and hand muscles The claws and the muscles of the feet cause the walking toes to land first and the posture is abnormal. In addition, there is excessive sweating and sweating.

Examination of neuromuscular rigidity

1. Serum muscle enzyme test helps to differentiate the diagnosis.

2. Serum electrolyte examination helps to differentiate the diagnosis.

3. EMG shows beam shake potential, double wave, triple wave or multiple wave.

4. Most patients had normal muscle and sural nerve biopsy. In some patients, muscle biopsy showed uneven muscle fiber size, angular fiber and muscle fiber hypertrophy, small group of muscle fiber atrophy, and increased nucleus. ATPase staining showed type I muscle fiber homotypic muscle grouping. And type II muscle fiber atrophy, sural nerve biopsy showed secondary myelin loss and axonal degeneration, muscle pathology showed neurogenic damage.

5. Electrophysiological examination: EMG shows tremor potential, double wave, triple wave or multiple wave. The stiff muscles appear as continuous irregular motion potential discharge, and their amplitude and shape change greatly. The release and persistence of muscle relaxation, the movement and sensory conduction slowed down.

Diagnosis and differentiation of neuromuscular rigidity

According to the majority of patients, young and adult, the clinical manifestations are mainly involuntary muscle fibrillation, muscle stiffness and pain after activity, and often sweating should consider the disease, EMG examination shows continuous electrical activity can be diagnosed Muscle and sural nerve biopsy can help differential diagnosis and understanding of the cause, a small number of patients may be associated with visceral cancer, so patients should be carefully examined.

Attention should be paid to the identification of glycogen storage myopathy, stiff syndrome and spinal myoclonus. The muscle biopsy of glycogen storage myopathy shows that glycogen accumulates in the muscle fibers, and the stiff syndrome is characterized by persistent muscle rigidity. And , spinal myoclonus is often a regular twitch of the muscles of the spinal segment.

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