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Hereditary ataxia is a very serious genetic disease, it will affect patients from childhood, such as when the patient develops in childhood, it will begin to have gait disorders, difficulty speaking, spinal curvature, arched feet and organ damage and other symptoms, these symptoms are not good, it will make the patient lifelong disease and even life-threatening.
According to the current research status of hereditary ataxia, the probability of this disease being passed on from one generation to the next generation is very small, but there are no studies that show that hereditary ataxia will decrease from generation to generation, and it is necessary to wait for further research results to know whether its inheritance is weakened from generation to generation. However, regardless of whether the inheritance of the disease will be weakened, people with a genetic history should still learn more about the symptoms of hereditary ataxia and actively prevent it. Here are 4 inherited ataxia symptoms for your reference.
1. The earliest symptom of hereditary ataxia is gait ataxia.
Gait ataxia is the earliest symptom of hereditary ataxia, in which patients show staggering walking, easy to shake back and forth, and easy to fall, and then develop upper limb movement disorders within 2 years, with symptoms such as clumsiness and intention tremor.
2. Hereditary ataxia will cause difficulty in speaking.
Hereditary ataxia disrupts the language centers of the cerebellum, causing cerebellar dysarthria, which makes it difficult to speak.
3. Hereditary ataxia will cause symptoms of spinal curvature.
Curvature of the spine is also a common symptom of the disease, because long-term progressive cerebellar ataxia can damage the patient's central system, resulting in organic lesions of the spinal cord.
4. Patients with severe hereditary ataxia will have cardiac lesions.
Patients with severe hereditary ataxia disorders will develop cardiomyopathy, and during echocardiogram**, the ECG will show T-wave inversion, ventricular hypertrophy, and conduction block. If myocarditis does not appear immediately**, it can visually cause congestive heart failure in a very short period of time, which is life-threatening.
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Hereditary ataxia causes nerve damage. The main cause of hereditary ataxia is caused by the genetic inheritance of the human body, which makes the tissue cells in the body unable to function normally, resulting in nervous disorders that affect the normal functioning of the body, and in severe cases, nerve damage. Although this disease cannot be completely cured, it can be treated through a combination of medication and training, which can effectively prevent the expansion of hereditary ataxia and reduce the pain caused by the disease.
It is recommended to usually combine some foods with high nutrient content in the diet.
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The main injuries to hereditary ataxia are the spinal cord, cerebellum and brainstem. The main symptoms are cerebellar ataxia, difficulty in judging distance, weakness of limbs, weakness of limbs and other symptoms. Hereditary ataxia includes juvenile spinal ataxia and spinocerebellar ataxia.
In any case, it does not alter the progression of the disease, so most patients with hereditary ataxia have a poor prognosis.
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Can hereditary ataxia cause spinal cord damage? This is not so serious, usually it causes us in the cerebellum.
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There is no special effect for ataxia at present**, in addition to general support**, acupuncture**, physical therapy and limb function exercises, there can also be various slag B vitamins, citicoline intramuscular injection, oral lecithin, etc., the most advanced is stem cell transplantation**. Stem cell transplantation differentiated neurons supplement reduced brain cells, secrete a variety of neurotrophic factors to promote the function of nerve cells in cerebellar tissue, can repair and improve nervous system diseases in structure and function, so as to improve cerebellar control dysfunction to achieve the effect of ataxia. The disease progresses slowly, and most of them do not affect life expectancy without serious cardiopulmonary complications.
A small number of patients are bedridden and disabled.
The hereditary risk of hereditary ataxia is relatively high, so patients with carrier genes should try to do prenatal diagnostic tests during pregnancy to prevent the birth of the child. Genetic testing can be done on the fetus during pregnancy to determine whether the fetus has the gene for this disease such as Hotaka, and for fetuses with chromosomal abnormalities, the pregnancy should be ended as soon as possible. The appearance of hereditary ataxia is not only related to genetics, but also related to consanguineous marriage, which should be avoided as much as possible in the choice of marriage.
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It is the most common type of inherited ataxia, which is usually inherited in an autosomal recessive manner, and is often accompanied by skeletal deformities in the early years. Clinical manifestations: onset in adolescence, slow development, the earliest symptoms are unsteady gait, staggering gait, shaking and shouting when standing, and a drunk-like gait.
It is difficult to close the eyes and have a positive sign. Muscle tone is low and knee and ankle reflexes are absent. The disease progresses gradually, with inflexible and clumsy movements in both upper extremities, intentional tremor, cerebellar dysarthria, and slurred speech.
Loss of position and vibration sensation in the lower extremities.
b) Hereditary spastic ataxia.
It is also known as hereditary cerebellar ataxia. It is usually inherited in an autosomal dominant manner, and most cases begin in adulthood with hypertonia and dysreflexia. Clinical manifestations:
Slowly progressive gait is preceded by unsteady gait, easy falling, and may have a waddling gait or a combined spasmodic gait. Later, the upper limbs are also affected, and the hands are clumsy and the intention tremor is present to the inability to complete fine motor skills, dysarthria, and speech may be fulminant language. Pyramidal tract signs, such as hypertonia, hyperfemoral reflexia, and pathologic reflexes, are present in the lower extremities.
Many patients have optic nerve atrophy, retinal degeneration, extraocular muscle immobility, and drooping eyelids. Nystagmus may appear very late and there is no skeletal deformity.
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There is currently no effective method for hereditary petrol blind cerebellar ataxia, which can be used for functional training or oral medication to delay the progression of the disease. Hereditary cerebellar ataxia is mainly about prevention, it is a hereditary disease, and those with a family history should try not to have children after marriage, and do not marry close relatives.
Hereditary cerebellar ataxia, some patients walk unsteadily, to prevent falls, try to be accompanied by someone, usually have a balanced and reasonable diet, to have enough protein and vitamin intake. Methods include medications, surgery, etc.
1.Drug**: Cerebellar hereditary ataxia is an autosomal dominant genetic disease, the lesion site is mainly in the cerebellum, often with ataxia as the first symptom, the patient has unsteady walking, easy to fall, gradually appear ataxia of both upper limbs, and may also be accompanied by speech disorders, weakness of both lower limbs, increased muscle tone, dysphagia and other symptoms.
There is no best way to improve the symptoms of this disease, and drugs such as levodopa, clonazepam, and tetrahexose ganglioside monosialate can be used to improve the corresponding symptoms.
2.Surgery**: Some patients with cerebellar hereditary ataxia can undergo optic thalamic destruction, corrective surgery, etc.**.
3.: Because patients have ataxia, unsteady gait, muscle weakness and other symptoms, acupuncture, electrotherapy, exercise training, etc.
If the patient suffers from cerebellar hereditary ataxia, it is recommended to standardize the treatment of sail air therapy under the guidance of the doctor, and the above methods also need to be applied carefully according to the doctor's instructions.
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I don't have the skin to cause peripheral nerve damage. But you have to make sure, go to the hospital for a check-up, and listen to the arrangement of the limb from the doctor. But you have to make sure that you go to the hospital for a check-up and follow the doctor's arrangement. I asked the doctor if he would be able to come to Japan as affectionately handsome?
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hereditary ataxia with peripheral neuropathy; There is no special method, acupuncture physiotherapy is recommended, combined with traditional Chinese medicine syndrome differentiation treatment ,..
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Spinocerebellar ataxia is a major type of inherited ataxia disorder and is an autosomal dominant disorder.
The clinical manifestations of spinocerebellar ataxia are mainly as follows:
1.Abnormal posture and gait, and lesions of the cerebellar vermis often lead to ataxia, unsteady gait, and excessive distance between the feet to manifest as a cross-gait.
2.Voluntary movement disorders and intention tremor are characterized by tremor as the patient's fingers approach a target object.
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Spinocerocerebellar ataxia is a genetic disorder that is inherited from autosomal dominant. In addition to ataxia, there can also be other clinical manifestations, such as eye movement disorders, optic nerve atrophy, extrapyramidal symptoms, peripheral neuropathy, progressive dementia, etc. In the early stage, it is generally manifested by unsteady walking, sometimes there is dizziness, limb shaking is more obvious, action response is sluggish, speech is slurred as the course of the disease progresses, unable to control one's tone freely, easy to double vision when looking at things, poor muscle coordination and movement, unable to perform fine movements, especially when writing.
Patients in the advanced stage are unable to speak, unable to stand, and need to walk in a chair or stay in bed for a long time, which may cause more serious pre-consciousness disorders, resulting in drowsiness.
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1. The common symptoms and signs of SCA are insidious onset at the age of 30-40 years old, with slow progression, and there are also children and patients with onset at the age of 70; Ataxia of the lower extremities is the first symptom, presenting with shaky walking, sudden falls, slurred speech, as well as clumsiness, intention tremor, nystagmus, dementia, and distal muscle atrophy; Examination reveals dystonia, tendon hyperreflexia, pathologic signs, spasmodic gait, tuning fork vibration sensation, and loss of proprioception. Usually 10 to 20 years after the onset of the disease, Zen is unable to walk.
2. In addition to the clinical manifestations of Gongming Shenchen, each subtype of filial piety has its own characteristics, such as SCA1 ophthalmoplegia, and the upward vision cannot be obvious; The tendon reflexes of the upper limbs of SCA2 are weakened or absent, and the slow saccade movement of the eyes is more obvious; SCA3 muscle atrophy, facial and tongue muscle fibrillation, eyelid retraction to form a bulging eye; SCA8 often has dysphonia; SCA5 progresses very slowly and has mild symptoms; early thigh muscle spasm, downward tremor, diplopia, and positional vertigo in the early stages of SCA6; SCA10 pure cerebellar sign and seizures; SCA7 vision loss or loss, retinitis pigmentosa, and cardiac damage are also prominent.
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Changes in posture and gait: unsteady standing and staggering. The second is voluntary motor coordination disorder:
The tremor is more pronounced when the upper limbs are heavier and the movement is closer to Huaichai. Language disorder: Speech is slow, slurred, and intermittent.
4. Ocular motility disorders: severe ataxia nystagmus is manifested as ataxia of ocular motor muscles. 5 Low Tension:
Patients with acute microcephaly disease may have a swing tendon reflex.
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Spinocerebellar ataxia, what should I do** 1. Spinocerebellar ataxia** There is no specific effect at present**, and symptomatic ** can relieve symptoms. Levodopa can relieve muscle rigidity and other Parkinson's symptoms, chlorphenamine can reduce spasticity, amantadine can improve ataxia, and then through physiotherapy and training, so that patients can maintain the highest level of self-care ability possible.
2. Clinical manifestations.
1.The initial symptoms are mostly ataxia of the lower limbs, which is manifested by unsteady gait and shaky limbs when walking. Slowness of motor response and poor accuracy.
2.Mid-term Slurred pronunciation when speaking and inability to control pitch. If the eye movement is not smooth, the image is prone to "overlap".
Muscle incoordination worsens, and it is impossible to write. Sometimes I feel that I have difficulty swallowing and I choke easily when eating.
3.Late speech is extremely unclear or even unable to speak. Limb weakness, unable to stand, need to rely on a wheelchair to walk. The ability to comprehend gradually decreases, and finally loses consciousness and falls asleep.
3. Prognosis Although there is no drug to treat this disease, if you can pay attention to the maintenance of the body, pay attention to diet, daily life, regular exercise, cooperate with the rehabilitation training required by cerebellar atrophy, and practice consistently, it will help delay the deterioration of the disease. Here are some tips for rehabilitation**: 1
Try to stay in touch with society and strive for a balance in life.
2.Choose a work and lifestyle that suits you, socialize with others as much as possible, and maintain a happy state of mind.
3.Cultivate exercise habits: Choose exercises that suit your physical state to maintain cardiorespiratory endurance and muscle strength, so that the flexibility of the body is in the best state.
4.Pay attention to daily life: don't stay in the same position for too long, and move your hands and feet often. 5.Receive physical**, occupational**, or verbal** to relieve the condition.
6.The loving care of a loved one strengthens the patient's vitality.
Symptoms of spinocerebellar ataxia 1. The common symptoms and signs of SCA are insidious onset at the age of 30-40 and progresses slowly, and there are also children and patients with onset at the age of 70; Lower extremity ataxia is the first symptom, manifested by shaky walking, sudden falls, and slurred speech, as well as clumsiness of hands, intention tremor, nystagmus, dementia, and distal muscle atrophy; Examination reveals dystonia, tendon hyperreflexia, pathologic signs, spasmodic gait, tuning fork vibration sensation, and loss of proprioception. Usually 10 to 20 years after onset, you cannot walk. 2. In addition to the common clinical manifestations, each subtype has its own characteristics, such as SCA1 ophthalmoplegia, and the upward vision cannot be obvious; The tendon reflexes of the upper limbs of SCA2 were weakened or the pants were absent, and the slow saccade movement of the eyes was more obvious; SCA3 muscle atrophy, facial and tongue muscle fibrillation, eyelid retraction to form a bulging eye; SCA8 often has dysphonia; SCA5 progresses very slowly and has mild symptoms; early thigh muscle spasm, downward tremor, diplopia, and positional vertigo in the early stages of SCA6; SCA10 pure cerebellar sign and seizures; SCA7 vision loss or loss, retinitis pigmentosa, and cardiac damage are also prominent.
Hereditary ataxia is usually very scary, it is a hereditary degenerative disease of the nervous system, after the onset of the disease, the first appearance of physical instability, and when walking is more staggering, like drunk, as the disease progresses, there will be weakness in the hands, unsteady when holding things, and it will be accompanied by intentional tremor, nystagmus. It is necessary to detect it early and early to avoid delaying the best time, and active intervention in the early stage can delay the development of the disease and improve the quality of life. If there are some familial supply disorders, it is considered to be more serious, after all, this kind of family neuropathy may be caused by genes, or some chromosomal reasons can not be carried out**, and the heritability of the next generation is relatively large. >>>More
Ataxia seriously affects the patient's gait and ability to perform activities of daily living, resulting in disorders in the randomness of movement, posture stability, balance, and accuracy. Too strenuous activity, high-intensity exercise, exertion, and too much physical activity can worsen the condition. Usually pay attention to the mood and keep the mood happy. >>>More
Ataxia does not have to be genetic.
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I feel sorry for the child, it's this at such a young age, but fortunately, the child has been eating the recovery recipe drink to recover.
Hereditary cerebellar ataxia.
Clinical presentation. 1.Most of them start at the age of 30 to 60 years, and a few develop at the age of adolescence or 70 years of age. There is a family history of autosomal dominant inheritance, often with ataxia gait as the first symptom, unsteady walking, and easy falling. Thereafter, bilateral upper extremity ataxia may gradually develop. >>>More