Spinocerebellar degeneration

Introduction to spinal cerebellar degeneration Spinal cerebellar degeneration is the main symptom of movement disorders. Pathologically, the disease is mainly caused by degeneration of the cerebellum and its afferent and efferent pathways. It is mainly characterized by limb ataxia and dysarthria. The cause of the disease is not clear, but epidemiological studies have shown that the incidence of spinal cerebellar degeneration may be related to genetic and viral infections. basic knowledge The proportion of illness: 0.005% Susceptible people: no specific population Mode of infection: non-infectious Complications: Acne

Causes of spinal cerebellar degeneration

Genetic factors (20%):

Most of the patients who started from the age of 20 were autosomal recessive, and those who started after the age of 20 were autosomal dominant. Many scholars at home and abroad have long-term research to locate the Friedreich ataxia-deficient gene at 9q13~q21. The OPCA genetic gene was mapped between 6p24 and p23.

Other factors (10%):

Studies have also shown that the incidence of spinal cerebellar degeneration is related to immune defects, lack of biochemical enzymes and abnormal DNA repair function, but the exact cause is not yet clear, and further clinical evidence is needed.

Viral infection (10%):

Viral infection causes an inflammatory response to induce spinal cerebellar degeneration.

Pathogenesis:

It has a variety of manifestations, such as atrophy of nerve cells, degeneration, loss of myelin, mild hyperplasia of glial cells, resulting in cerebellar hemispheres and ankles, extensive degeneration of the cerebellum, and disappearance of Purkinje cells; spinal cord The nerve cells in the posterior column and the Clark column atrophy or disappear, secondary glial cell hyperplasia, posterior root and spinal ganglion degeneration, loss of myelin, especially in the lumbar, sacral spinal cord, cerebral cortex, basal nucleus Denaturation of the brain stem part of the thalamus, the basal ganglia of the pons.

With the advancement of medicine, breakthrough research has been made in this disease in recent years. There are several types of SCA with abnormal increase in the number of trinucleotide repeats in the gene, such as this CAG in the SCA3 gene. The number of repeats is 12-40, and the number of patients will increase to 56-86. The amino acid corresponding to CAG is glutamic acid, so the protein produced will carry a longer glutamic acid tail. The long tail causes abnormal function and metabolism of proteins, which in turn causes cell death. For its pathogenic mechanism, scientists are actively investing in research to find effective treatment methods.

Spinal cerebellar degeneration prevention

1. Try to stay in touch with the society and strive for a balanced life.

2. Choose the work and lifestyle that suits you, and interact with others as much as possible to maintain a pleasant state of mind.

3. Develop exercise habits. Choose the exercise that suits your physical condition to maintain cardio-respiratory strength and muscle strength, so that your body's softness is at its best.

4. Pay attention to daily life. Don't fix it in the same position for too long, often moving your hands and feet.

5. Receive physical therapy, occupational therapy or speech therapy to relieve the condition.

6. Under the care of the loved ones of the patients, the vitality of the patient can be enhanced.

Spinal cerebellar degeneration complications Complications

After 10 years, it became bedridden, and eventually died due to complications such as lung infection, hemorrhoids.

Symptoms of Spinal Cerebellar Degeneration Symptoms Common Consonants Dysphagia Dysphagia Difficulties Ataxia Dyslexia Cough Brain Development Disorders

Initial stage: Unsteady walking, limb shaking, slow response and poor accuracy.

Mid-term: The pronunciation is ambiguous when speaking, unable to control the tone; the eyeball is not smooth, the image is easy to overlap; the muscle discomfort is aggravated, it is impossible to write; sometimes it is difficult to swallow, and it is easy to cough when eating.

Late: Speaking is extremely unclear, even unable to speak; limbs are weak, can't stand, need to rely on wheelchairs and so on.

Examination of spinal cerebellar degeneration

1. Cranial nervous system clinical examination: mainly including olfactory nerve, optic nerve, eye movement, trochle, nerve, trigeminal nerve, facial nerve, hypoglossal nerve and so on.

2. Nuclear Magnetic Resonance (MRI): cerebellar tissue lesions and vascular lesions can be observed from the presented images.

3. Genetic testing: belongs to autosomal recessive inheritance. The related genes are located on chromosome 9.

4. Can be used for SCA1 to SCA12 testing and pre-symptomatic testing.

Diagnosis and differentiation of spinal cerebellar degeneration

diagnosis

Diagnosis method: The doctor will first judge the patient's cranial and spinal nerve disorders according to the procedure of the cranial nerve system clinical examination, and then ask his family history, and finally through the magnetic resonance imaging (MRI) and genetic test, in order to diagnose accurately .

Differential diagnosis

Friedreich ataxia is the prototype of spinal ataxia. It belongs to autosomal recessive inheritance. The relevant gene is located on chromosome 9. Gait instability occurs between the ages of 5 and 15, followed by upper limb ataxia and sputum eating. Intelligence often also declines. If tremors appear, they are secondary symptoms. The sputum reflex disappears and there is a loss of the feeling of large fiber conduction (vibration and position). Common arched feet, scoliosis and progressive myocardial lesions. Both blood -lipoprotein deficiency (Bassen-Kornzweig syndrome, vitamin E deficiency) and Refsum disease have some clinical manifestations of Friedreich ataxia, but the underlying metabolic disorder is currently unknown.

Cerebellar ataxia generally begins between the ages of 30 and 50, and both sporadic cases and cases of dominant inheritance have been reported. Pathological changes are limited to the cerebellum and occasionally the lower olive. Clinically only signs of cerebellar dysfunction.

In multiple system atrophy (the olivine bridge cerebellar atrophy), ataxia develops in young and middle age. Additional symptoms include different combinations of tonicity, extrapyramidal symptoms, sensory disturbances, lower motor neuron symptoms, and autonomic dysfunction. Optic atrophy, pigmented retinitis, ocular tendon and dementia can occur in certain families. These syndromes include Menzel dominant genetic disease (with cranial nerve disorders and rigidity); Dejerine-Thomas sporadic or recessive genetic syndrome (with significant Parkinson's syndrome symptoms); Azov-type motor system degeneration (Machado- Joseph's disease); and cerebellar ataxia with autonomic dysfunction (Shy-Drager syndrome).

Some systemic diseases with unknown pathogenesis, such as ataxia-telangiectasia, can also produce ataxia. In mitochondrial multisystem diseases, in addition to ataxia, there are different combinations of eye muscle spasm, heart block and myopathy. Several respiratory chain enzyme activities are reduced, mitochondrial DNA is absent, and muscle biopsy shows characteristic broken red fibers.

The material in this site is intended to be of general informational use and is not intended to constitute medical advice, probable diagnosis, or recommended treatments.