Torsion spasm

Introduction to twisting Torsion spasm (torsionspasm), also known as idiopathic torsion spasm (ITS), torsion dystonia (torsiondystonia), primary dystonia (primary dystonia), clinical dystonia and limbs, trunk and even the body is not strong Feel free to twist as a feature. It is divided into primary and secondary, and primary is more common. basic knowledge Sickness ratio: 0.5% Susceptible people: no special people Mode of infection: non-infectious Complications: spasmodic torticollis

Reversing the cause of sputum

Genetic factors (30%)

Some autosomal dominant patients are caused by mutations in the long arm (9q34) DYT1 gene of chromosome 9. The gene is located on autosome 14q due to torsion spasm caused by dopa-responsive dystonia. The cause of idiopathic torsion is unknown, mostly distributed, and a few have a family history. A number of studies have shown that approximately 85% of patients with torsion spasm have a lower penetrance autosomal dominant gene, and a small number of people have new mutations. Whether there are autosomal recessive or X-linked genetic types in the average person is not certain. In the relatives of the first generation of the genetic family, the risk of disease is about 20%.

Disease factor (20%)

Poisoning factor (15%)

In particular, CO and levodopa, phenothiazine or butyrylbenzene are excessive and cause torsion.

Rare cause (15%)

Yatziv reports on three siblings in an Italian family, concealing onset, showing dysarthria, twisting the neck, spine, and extremities, and examining urinary thiolipase-A levels in urine, white blood cells, and fibroblasts. Reduction, confirmed as metachromatic leukodystrophy (MLD), is a rare cause of symptomatic torsion spasm.

Twisting prevention

Prevention is more important in patients 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.

Torsion complications Complications

Some patients may have mental decline, unable to engage in normal activities due to involuntary movements, and advanced cases may be severely disabled due to skeletal deformities and muscle contractures.

Twisting sputum symptoms Common symptoms Sputum torticollis writing twitching action Legs and cramps Involuntary movements of the mouth is not clear gluteal muscle contracture

Twisting sputum is mainly the involuntary squat and twist of the trunk and limbs, but the shape of this movement is singular and changeable. The onset is slow, often starting from one foot or both feet, with squatting stagnation, once the limbs are affected. The proximal muscle is heavier than the distal muscle. The cervical muscle is invaded by the spasmodic torticollis. The involvement of the trunk muscle and the paraspinal muscle causes the whole body to twist or spiral. It is a characteristic manifestation of the disease. When nervous, the torsion is aggravated, the torsion movement disappears during quiet or sleep, the muscle tension increases during the torsional movement, and the torsional movement stops to become normal or decrease. The deformed dystonia is named after this, and the severe cases are unclear. Restricted swallowing, mental retardation, under normal circumstances, the nervous system examination is generally normal, no muscle atrophy, reflex and deep and normal feeling, very few patients may have joint dislocation due to torsion, most patients develop slowly, and can last for many years, A very small number of patients do not progress or self-resolved, and a small number of patients have severe fibrosis and degeneration of joint soft tissue due to severe torsion spasm, making the joints permanent. Contracture deformity, atrophy of the muscles around the joint.

The outcome of primary torsion spasm is quite different. The age and location of onset are the two main factors affecting prognosis. The early onset age (before 15 years old) and the patients from the lower limbs are mostly progressing, and finally almost all develop. For the systemic type, the prognosis is poor, and many deaths occur after several years of onset. The self-remission is rare. The onset of adulthood and the symptoms are better from the upper limbs. The involuntary movement tends to be limited to the onset site for a long time. The prognosis of sexual hereditary or sporadic is better than the recessive hereditary type, because the former is younger and has more onset from the upper limb.

Twisting inspection

Blood electrolytes, drugs, trace elements and biochemical tests help to differentiate diagnosis and classification.

1. CT, MRI, positron emission tomography (PET) or single photon emission tomography (SPECT), meaningful for differential diagnosis.

2. Genetic analysis is important for the diagnosis of certain hereditary dystonia.

Torsional diagnosis

It is not difficult to diagnose the torsion, because the neck, the trunk, the pelvis and other singular torsional movements are unique to the disease and can be seen at a glance.

Differential diagnosis:

1. Hepatolenticular degeneration: occurs mostly in the 20 to 30 years old, the course of the disease progresses slowly, followed by limb tremor, increased muscle tone, difficulty in articulation, hepatic nucleus degeneration, limb tremor is mostly intentional tremor, sometimes Large and flapping, the muscle tension is gradually increased, initially multi-limb limbs, and then spread to the limbs and trunk. If the muscle rigidity persists, abnormal posture may occur. Such patients are often accompanied by mental symptoms, and there are KF rings on the cornea. .

2. Hand and foot hyperactivity disorder: If congenital is accompanied by cerebral palsy, mainly the slow and irregular twisting action of the hand and foot, the distal end of the extremities is more proximal than the proximal end, and the muscle tension is high and low, and the change is impermanent. Twisting sputum mainly invades the cervical muscles, the trunk muscles and the proximal muscles of the limbs, while the facial muscles and the hands and feet are spared or mildly affected. The muscle tension is high and low, and the changes are impermanent. Symptomatic acromegaly, often caused by encephalitis. After, hepatolenticular degeneration or nuclear jaundice.

3. Rickets: The involuntary movement of rickets is susceptible to suggestive effects, and often has mental factors as the background, and the long-term persistence of symptoms can strongly rule out the possibility of rickets.

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