stiff man syndrome
Introduction
Introduction to the stiff syndrome Stiff mandy syndrome (SMS) is a rare disease of the central nervous system characterized by muscle undulation, progressive stiffness and paroxysmal cramps. The stiff syndrome was first described by Moersch and Woltman (1956). To date, only a few cases of SMS patients with cancer and glutamate decarboxylase circulating antibodies (anti-GAD antibodies) have been reported, in 10 patients Among them, 6 cases showed specific antibodies against the 128kDa antigen. The antibodies were co-expressed by neuronal cytoplasm and tumors. The cancers with this antibody were diverse, especially breast cancer, and also found in colon cancer and Hodgkin disease. basic knowledge The proportion of illness: 0.0003% Susceptible people: no special people Mode of infection: non-infectious Complications: depression
Cause
Cause of stiff syndrome
Chromosomal inheritance (36%):
The etiology of SMS has so far been unclear and rare autosomal dominant inheritance. Solimena (1988) suggested that its pathogenesis may be related to autoimmunity. The literature reports that SMS may be associated with autoimmune diseases such as pernicious anemia, hyperthyroidism, thyroiditis, Adrenal insufficiency, leukoplakia, insulin-dependent diabetes mellitus, etc. Some patients have a history of infection before the disease, and their cerebrospinal fluid leukocytes, proteins or immunoglobulins are slightly elevated.
Neuronal damage (20%):
It has been reported that 60% of SMS cases have anti-GAD antibodies, and most of the patients with insulin-dependent diabetes mellitus without neurological damage can also find this antibody. All of the above suggest that autoimmune mechanisms are involved in the pathogenesis of SMS, and patients with SMS have muscle rigidity. The cause is unclear, and some of these patients may be caused by damage to the spinal cord neurons.
Other (10%):
SMS can also be associated with malignant tumors such as breast cancer, lymphoma, and lung cancer, so it is called a paraneoplastic syndrome.
Pathogenesis
60% to 70% of SMS patients have elevated serum and cerebrospinal fluid anti-glutamate decarboxylase (GAD) autoantibodies. Schmierer found that GAD antibody-negative patients have a neuronal presynaptic membrane 12B-kd protein antibody. As for the role of these antibodies in the disease is not clear, plasma exchange and immunosuppressive drugs can relieve some patients with symptoms, the above findings suggest that the disease may be an autoimmune disease.
Alpha motoneurons are controlled by the excitatory catecholaminergic nervous system and the inhibitory gamma-aminobutyric acid (GABA) energy system. SMS may cause muscle stiffness and clonicity due to the imbalance between the two, based on the patient's urinary noradrenal gland. The metabolite methoxypoxyethanol (MHPG) is significantly elevated. The clinical application of diazepam has achieved good efficacy and the discovery of GAD antibodies. Diazepam can inhibit the activity of catecholamine nerves, reduce the excitability of motor neurons, and enhance the center of GABA. Inhibition, the urinary MHPG decreased, GAD is the endoplasmic enzyme of GABAergic nerve, which converts glutamate into GABA; the increase of GAD antibody may affect the synthesis or dysfunction of GABA, and the inhibition of GABA is reduced. Scholars believe that the mechanism of SMS muscle stiffness may be inhibited by inhibitory interneurons, and excitatory interneurons are hyperactive. In short, the exact pathogenesis of this disease needs further study.
Prevention
Zombie syndrome prevention
There is no special precautionary method for early diagnosis and treatment of possible autoimmune-related diseases such as pernicious anemia, hyperthyroidism, thyroiditis, adrenal insufficiency, leukoplakia, insulin-dependent diabetes, etc.; and breast cancer, lymphoma, lung cancer Such as malignant tumors.
Complication
Complications of stiff syndrome Complications depression
Patients often have psychiatric symptoms, such as depression, fear, but normal intelligence, chest and abdominal muscle stiffness can be difficult to breathe, platy abdomen, extensor muscle contraction is too strong, visible toe dorsiflexion, foot varus, paraspinal muscle contraction The spine is protruding.
Symptom
Symptoms of stiff syndrome Syndrome Common symptoms of facial muscle rigidity, dysphagia, platoon abdominal muscle spasm, dyspnea, dyspnea, sensory disturbance, difficulty in varus depression
1.SMS is mostly distributed, no obvious gender difference, age 13 to 73 years old, foreign reports are insidious onset, slow progress is more common, while domestic Shi Pei Lin (1992) reported 12 cases of acute subacute onset in 10 cases, the course of disease It is days to months.
2. Outstanding clinical features involve the trunk, neck, axial muscles of the extremities, antagonism of the muscles at the same time, muscles are persistent or fluctuating stiffness and paroxysmal pain or painless sputum, external stimuli or emotional factors can make it Exacerbation, the patient suffers from pain, screaming, sweating, difficulty breathing, strong muscle contraction and fixation of the joints, like "tetanus-like or strong-like", severe fractures can occur, head and neck muscles are difficult to open, neck Tightness, difficulty in turning neck, facial expression disorder, difficulty in swallowing, unclear speech, but brain nerves are not involved, chest and abdominal muscle stiffness can be difficult to breathe, platy abdomen, extensor muscle contraction is too strong when visible toe back Flexion, foot varus, paraspinal muscle contraction causes spine protrusion, sleep or muscle relaxant can relieve or disappear muscle stiffness, no sensory disturbance and pyramidal tract sign.
3. Patients often have mental symptoms such as depression, fear, but intelligence is normal.
Examine
Examination of the stiff syndrome
To date, no laboratory examination has confirmed the diagnosis of SMS. Normal routine tests are normal, serum muscle enzymes are normal or slightly elevated, creatinine may be elevated, GAD antibody positive in serum and cerebrospinal fluid may help diagnose, cerebrospinal fluid leukocytes, protein and Immunoglobulin IgA, IgG, IgM can be slightly elevated.
1. Routine electromyography examination can be seen to antagonize a large number of continuous normal exercise unit activities in the muscle group. External stimulation can enhance it, patients can not control themselves, sleep or muscle relaxants can weaken or disappear, and nerve conduction velocity is normal.
2. MRI is mostly normal, and a small number of patients have a transient T2-weighted high signal change in the brainstem or cervical spinal cord.
3. Most of the muscle biopsy is normal, and some of the muscle fibers are mildly transparent and the peripheral nerves are normal.
Diagnosis
Diagnostic identification of stiff syndrome
diagnosis
According to typical clinical manifestations, progressive muscle stiffness, paroxysmal spasm, mainly due to central axis antagonistic muscle involvement, electromyography, sleep or application stability can make symptoms relieve or disappear, etc. is not difficult to make a diagnosis.
Differential diagnosis
Attention should be paid to the presence or absence of other concomitant diseases, such as malignant tumors, and identification with tetanus, neuromuscular rigidity, progressive supranuclear palsy, Parkinson's disease, and snoring.
