Dystonic syndrome

Introduction to dystonia syndrome Dystolic syndrome (dystonia) is called dystonia, which is an incoherent or excessive contraction of active muscles and antagonistic muscle contractions, causing dyskinesia syndrome characterized by abnormal muscle movements and postures, with involuntary and Persistence characteristics. Although it is called dystonia syndrome, the changes in muscle tone are not noticeable, but the abnormal posture posture and involuntary transformation action are noticeable. Dystonia can affect the normal range of motion of the affected limb, range, speed, and muscle stiffness. basic knowledge The proportion of illness: 0.002% Susceptible population: hereditary progressive dystonia is more common in children Mode of infection: non-infectious Complications: muscle atrophy, difficulty swallowing

Causes of dystonia syndrome

Genetic factors (40%):

The cause of idiopathic dystonia is unknown and may be related to heredity. That is to say, the phenomenon that the trait of the parent is expressed in the next generation, and the phenomenon that the genetic material is passed from the previous generation to the offspring.

Reticular lesions (50%):

Secondary dystonia is often a symptom of lesions such as the basal ganglia, thalamic and brainstem reticular formation. The main function of the basal ganglia, thalamus and brainstem reticular formation is the control of autonomous movement. It also participates in advanced cognitive functions such as memory, emotion and reward learning. Lesions around the basal ganglia can cause a variety of motor and cognitive disorders.

Pathogenesis

Idiopathic dystonia (idiopathic dystonia) can be autosomal dominant (30% to 40% penetrance), autosomal recessive or X-linked recessive inheritance, and the dominant genetic defect gene DYT1 has been located at number 9 The long arm of the chromosome 9q3234, which encodes the ATP-binding protein torsin A, may have sporadic cases, and environmental factors such as trauma or overwork may be induced. For example, before the onset of oral-mandibular dystonia, there may be facial or dental The history of injury, one side of the limbs overworked, often induced writing sputum, typists and athletes limbs.

Secondary dystonia is caused by lesions such as striatum, thalamus, blue spot, brainstem reticular structure, such as hepatolenticular degeneration, bilirubin encephalopathy, ganglioside deposition, globus pallidus Nuclear pigmentation, progressive supranuclear palsy, idiopathic basal ganglia calcification, hypoparathyroidism, poisoning, stroke, brain trauma, encephalitis, etc.; in addition, drugs (levodopa, phenothiazines, butyl Acylbenzenes, metoclopramide can also be induced.

Dystonia can also be caused by psychological factors that are characterized by cues.

Pathological and neurobiochemical changes: non-specific pathological changes were observed in idiopathic torsion sputum, including the nucleus of the putamen, small neurons in the thalamus and caudate nucleus, increased lipid and lipoprotein in the basal ganglia, and pathological features of secondary torsion There are no specific pathological changes in the dysplasia, such as spastic torticollis, Meige syndrome, writing sputum and occupational sputum.

Antagonistic muscle hypertrophic contraction is the main physiological feature of this disease. Each contraction of the limb often spreads from the proximal end to the distal end. Electromyography shows that there is no involuntary motor potential during the intermittent period of muscle contraction. It is classified into 3 types according to the characteristics of EMG. :

1 muscle contraction lasting 30s, resting at short intervals;

2 repetition, rhythmic contraction and resting state, systolic and resting periods are 1 to 2 seconds;

3 fast, short-term muscle contraction, lasting 100ms, behaves like myoclonus.

Dystonia syndrome prevention

Prevention is more important in diseases with a genetic background. Preventive measures include avoiding marriage by close relatives, conducting genetic counseling, genetic testing of carriers, prenatal diagnosis and selective abortion to prevent birth, early diagnosis, early treatment, and strengthening. Clinical care is of great significance to improving the quality of life of patients.

Complications of dystonia syndrome Complications, muscle atrophy, difficulty swallowing

(1) radiculopathy: due to the lesions of the collateral nerve roots of the spinal cord, it can lead to muscle atrophy caused by muscle denervation, and abnormalities such as numbness and acupuncture.

(2) Muscle pseudohypertrophy: a type of muscular dystrophy. Muscular dystrophy is mainly caused by genetic factors, and in addition to genetic factors, the patient's own genetic mutation can also cause the disease. Clinically, progressive muscle atrophy is the main clinical manifestation.

(3) difficulty in swallowing: because the lesion can affect the muscles of the epiglottis, it can cause difficulty in swallowing.

Symptoms of dystonia syndrome Common symptoms Narcotic sleep Child dystonia dysarthria Red blood cell muscle tone Reduced muscle tension Reduced dystonia dystonia Segmental dystonia Automatic Babin... Strange Asynchronous State

The clinical classification of dystonia is not yet uniform. The various classifications of dystonia are related to clinical features, mainly based on the affected limbs and parts of dystonia, the causes of dystonia, and the age at onset.

1. The "Neurology" (first edition of 2006) edited by Wang Weizhi in China introduces the following classification

(1) Classification according to the lesions involved:

1 Localized dystonia: affects a part of the body, such as spastic torticollis, snoring difficulty (vocal cord), sputum, mouth-mandibular dystonia, writing sputum (one upper limb), occupational spasm, foot muscle Dystonia and so on.

2 segmental dystonia: characterized by segmental distribution, such as cranial-neck dystonia, upper or lower limbs with or without the central axis, head and neck dystonia, lower limbs with or without trunk dystonia, torso - The neck (does not affect the head and face) dystonia.

3 multiple parts of dystonia: involving more than 2 parts of the body.

4 Extensive dystonia: affects a wide range of bodies.

5 lateral dystonia: only involving the unilateral body.

(2) Classification by cause:

1 hereditary progressive dystonia: mostly in children with morbidity, manifested by walking disorders and decreased exercise, abnormal trunk posture, waist bending forward obviously, intraday symptom fluctuations, morning light, aggravation in the afternoon to evening, progressive development, L The effect of -dopa is significant, and this disease may have similarities with Parkinson's disease.

2 symptomatic dystonia: such as cerebral palsy, stroke involving the basal ganglia, Wilson's disease, Hallervorden-Spatz disease, encephalitis, brain tumor, psychotropic drug side effects and other dystonia, Parkinson's disease can sometimes be accompanied by muscle tension obstacle.

2. Shanghai Shi Yuquan and other editors of Practical Neurology (3rd Edition, 2004) advocate the following classifications

(1) Classification according to the range of dystonia:

1 focal dystonia (focal dystonia): only involving the eyelid muscle group, called eyelid (blepharospasm); involving the perioral and mandibular muscle group, called orthodontic dystonia (oromandibular dystonia); disease involving The laryngeal muscles are called spasmodic dysphonia; the disease involves the neck muscles called spasmodic torticollis; the disease involves the forearm and the hand, called writer cramp .

2 segmental dystonia (segmental dystonia): the muscles involved in the cranial and neck muscles, called cranial segmental dystonia (cranial segmental dystonia); the neck and torso are called the longitudinal axis Segmental dystonia; involving one arm and longitudinal axis or upper upper arm, called brachial segmental dystonia; involving one side of the femoral muscle and trunk or both sides The femoral muscle (with or without trunk involvement) is called crural segmental dystonia.

3 dystonia (hemidystonia): refers to the muscles of the ipsilateral upper and lower limbs, mostly caused by secondary causes.

4 generalized dystoina (generalized dystoina): refers to the disease involving 3 or more limbs with the trunk, cranial, cervical or medullary muscles, such as systemic torsion spasm (torsion spasm).

(2) Classification according to the onset age of dystonia:

1 Child dystonia: The patient is younger than 12 years old.

2 juvenile dystonia: patients aged 13 to 20 years old.

3 adult dystonia: patients older than 20 years old.

Dystrophic dystonia in childhood, the condition is often progressive, first involving the lower extremities, gait disorders, and later lead to systemic dystonia, poor prognosis, adult dystonia is often limited, such as the neck, upper limbs It rarely affects the whole body, the legs are not tired, and the condition does not progress.

(3) Classification according to the cause of dystonia:

1 primary dystonia:

A. Hereditary (autosomal dominant or recessive inheritance, X-linked recessive inheritance): myoclonic dystonia (alcoholic reactivity, autosomal dominant inheritance), paroxysmal dystonia , paroxysmal hypnogenetic dystonia, typical "idiopathic" torsade dystonia (simple dystonia, autosomal dominant inheritance, dytl gene), atypical "idiopathic" torsion Dystonia (autosomal dominant), atypical dystonia (autosomal dominant).

B. Sporadic dystonia.

2 secondary dystonia: including dopa-responsive dystonia (gene located on chromosome 14), sporadic dystonia with Parkinson's syndrome, X-linked recessive hereditary dystonia - Parkinson's syndrome ( Among Filipinos, hereditary myoclonic dystonia, juvenile Huntington's disease, familial amyotrophic dystonia, Hallervorden-Spatz disease, progressive pale Ball degeneration, hereditary ataxia, dystonia with neurological spasm, Joseph's disease, ataxia telangiectasia, Rett syndrome, bilateral bilateral striatum necrosis, familial basal ganglia calcification, nerve Arachnoidosis, etc., also caused by phenothiazine drugs, craniocerebral trauma, basal ganglia tumors, metabolic diseases.

3. The main clinical features of dystonia are more than 10 to 20 years old, the initial progress is faster, and then gradually slower, sometimes not progressing or slightly improved, the course of the disease is uncertain, there are more sporadic cases in Japan, and other families have more familial diseases. Clinical manifestations of various symptoms and signs, such as torsion-like movement, spasmodic torticollis, writing sputum, throwing movement and posture abnormalities, unnatural walking posture, etc., initial standing position or movement often involuntarily posture or limb position abnormality, lying position Muscle tension disappeared, and as the disease progressed, abnormal muscle tension appeared in the supine position, and bone deformation or abnormal muscle development was observed. Although there was no obvious abnormality in muscle strength of the muscles during the coarse movement, the delicate movement could not be completed due to muscle tension, but it was still possible to write. Walking and cycling, sometimes with finger tremors or myoclonic movements.

Examination of dystonia syndrome

Blood electrolytes, drugs, trace elements and biochemical tests help to diagnose and classify the cause.

1. CT or MRI examination: It is meaningful for differential diagnosis.

2. Positron emission tomography (PET) or single photon emission tomography (SPECT): It can show some biochemical metabolism in the brain, which is meaningful for diagnosis.

3. Genetic analysis: It is important to diagnose certain hereditary dystonia diseases.

Diagnosis and differentiation of dystonia syndrome

Idiopathic spastic torticollis is a manifestation of dystonia in the cervical muscles. The writer cramp is a dystonia posture in the hand and forearm when writing. The pen is like a dagger, the arm is stiff, the wrist is flexed, and the elbow is Involuntarily bowed outward, palms facing the side, etc., but other actions are normal, can also show other professional shackles, such as playing the piano, typing, using a screwdriver or a knife, etc., drug treatment is usually invalid, allowing patients to learn Use the other hand to complete these tasks.

It is easier to diagnose patients with dystonia such as torsion spasm, spasmodic torticollis, writing sputum, and throwing movement. After determining this syndrome, the cause should also be found.

Dystonia syndrome should be distinguished from myoclonus and snoring. The muscle tension of this disease is a centrally involuntary involuntary muscle contraction. Note that it is different from Parkinson's disease.

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