Finger nose is not allowed

Introduction Finger nose test: The patient will stretch the arm and extend the abduction. The first finger touches the tip of the fingertip of the examiner, and then refers to the tip of the nose. It is repeated in different directions, speeds, and closed eyes. When the cerebellum lesions are inaccurate, the movement is slow when approaching the tip of the nose, the distance cannot be adjusted correctly, the distance is excessive (poor discrimination) or action tremor occurs. The degree of fingertip inaccuracy is parallel to the degree of damage. Spinal cerebellar degeneration (English name: spinocerebellar ataxia) is the main symptom of movement disorders, pathologically the disease of the cerebellum and its afferent and efferent pathways, clinically is the body ataxia and structure The sound barrier is the main feature. Many of these syndromes are hereditary, while others are sporadic. Spinal cerebellar degeneration can be roughly divided into three groups: ataxia caused by spinal cord degeneration, cerebellar ataxia, or multiple system atrophy. There are currently no special treatments for these diseases.

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.

The doctor will first judge the patient's cerebellum and spinal cord neurological disorder according to the procedure of the cranial nervous system clinical examination, and then ask his family history (including the deceased relatives), and finally pass the magnetic resonance imaging (MRI) and genetic testing. In order to determine whether the patient has cerebellar atrophy.

Genetic mode:

Because this is an autosomal dominant disease, if one parent has cerebellar atrophy, the child will have a 50% chance of suffering from the disease regardless of gender. If the child is not hereditary, the next generation will not suffer from the disease.

A large number of clinical data reports have shown that most patients with cerebellar atrophy are hereditary, and the condition is chronic, progressive deterioration, and if not effectively controlled, it will soon be life-threatening. Therefore, once it is found that early medication should be used, it can effectively control the disease, improve the original symptoms, improve the quality of life, and delay life.

an examination

Related inspection

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The main clinical manifestations are: slow autonomic activity, increased trunk and limb muscle tension, unstable standing, wide stride, gait squatting, inability to walk straight, "drunken gait", and dysarthria, language disadvantage, Dysphagia, drinking water cough, eye tremor, inaccurate holding, finger nose, dizziness, insomnia, syncope, palpitations, orthostatic hypotension, perspiration disorder, frequent urination, sexual dysfunction or obstruction.

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.

Differential diagnosis

Cerebellar ataxia generally begins between 30 and 50 years of age. Both sporadic cases and cases of dominant inheritance have been reported. Pathological changes are confined to the cerebellum and occasional lower olives. Clinically, there are only signs of cerebellar dysfunction.

In multiple system atrophy (the olivine bridge cerebellar atrophy), ataxia develops in young and middle-aged. Additional symptoms include different combinations of tonicity, extrapyramidal symptoms, sensory disturbances, lower motor neuron symptoms and autonomic function Disorders. 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 (significant symptoms of Parkinson's syndrome); Azov-type motor system degeneration (Machado-Joseph 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.