Cerebellar Orientation and Dysfunction
Introduction
Introduction Cerebellar orientation and dysfunction: Spinal cerebellar degeneration (English name: spinocerebellar ataxia) is the main symptom of movement disorders, which seriously affect the cerebellar orientation and dysfunction. Pathologically, the disease is mainly caused by the degeneration of the cerebellum and its afferent and efferent pathways. It is mainly characterized by limb ataxia and dysarthria. Clinical manifestation Initial stage Walking irregularly, limbs shaking; slow response and poor accuracy. 2. Medium term When speaking, the pronunciation is ambiguous and the tone cannot be controlled. The eyeball is not smooth, and the image is prone to overlap; the muscle dissonance is aggravated and cannot be written; sometimes it is difficult to swallow and it is easy to cough when eating. 3. Late Speaking is extremely unclear, even unable to speak; limbs are weak, can not stand, need to rely on a wheelchair to travel; understanding ability gradually decline, and finally lose consciousness, sleepy.
Cause
Cause
The etiology of this disease is unknown, but most of them have a family genetic predisposition. Most of the patients who started from the age of 20 were autosomal recessive, while those who started after the age of 20 were mostly autosomal dominant. After long-term research, many scholars at home and abroad have located the Friedreich ataxia-deficient gene at 9q13~q21, and the OPCA genetic gene at 6p24~p23. At the same time, it was found to be related to many factors such as viral infection, immunodeficiency, lack of biochemical enzymes and abnormal DNA repair function, but the exact cause is not fully understood.
In terms of pathology, its performance is diverse. Commonly, there are atrophy and degeneration of nerve cells, loss of myelin sheath, mild hyperplasia of glial cells, and extensive degeneration of the cerebellar hemisphere and ankle, cerebellum and lower abundance, Purkinje cells. Disappeared; nerve cells in the posterior column of the spinal cord and Clark column atrophy or disappear, secondary glial cell hyperplasia, posterior root and spinal ganglion degeneration, myelin loss, especially in the lumbar and temporal spinal cord. Degeneration of the brain stem part of the cerebral cortex, basal ganglia, thalamus, and basal ganglia of the pons can also be seen.
With the advancement of medicine, breakthrough research progress has been made in this disease in recent years. There are several types of SCA that have an abnormal increase in the number of trinucleotide repeats in the gene. For example, the number of CAG repeats in the SCA3 gene is 12-40, and the number of patients increases to 56- 86. The amino acid corresponding to CAG is glutamic acid, so the protein produced by it will carry a long glutamic acid tail. This long tail will cause abnormal function and metabolism of the protein, which will cause cell death. For their pathogenic mechanisms, scientists are actively investing in research to find effective treatments.
Examine
an examination
Related inspection
Brain MRI
1. Clinical examination of the cranial nervous system.
2. Nuclear Magnetic Resonance (MRI).
3. Genetic testing.
Diagnosis
Differential diagnosis
To be differentiated from paraneoplastic cerebellar degeneration. The distant symptoms of some tumors often show cerebellar degeneration, especially in patients with small cell lung cancer, ovarian cancer, Hodgkin's disease, and breast cancer.
