How does ataxia affect the patient?The disease is characterized by progressively disabling clinical manifestations. Patients show symptoms of gait instability or dysarthria and may begin to fall without warning. Gradually they present progressive limitations in their activities, lose the ability to walk, become bedridden and fully dependent. Other clinical manifestations include astasia, impaired fine motor skillsand intention tremor (cerebellar tremor). The cerebellar syndrome is often associated with other neurological signs such as pyramidal or extrapyramidal signs, ophthalmoplegia, and cognitive impairment.
How to diagnose ataxia?Most people dont know what ataxia is and may overlook the early symptoms. Anyone with progressive gait disorder or imbalance should be evaluated by a neurologist. MRI is recommended in all cases. If a treatable cause is not discovered, a gene test should be done. In about 60 percent of the cases, the gene test will determine the type of ataxia.
What is the efficacy of conventionaltreatments?Until now, conventional treatments are generally used to alleviate the symptoms, not the disease itself. The movement disorders can be managed using pharmacological, physical and occupational therapies to minimize the damage and to promote the mobility as long as possible but overall current treatment remains retardant.
What are the difference between autosomal dominant and autosomal recessive ataxias?Autosomal dominant and autosomal recessive ataxias are hereditary ataxias, and spinocerebellar ataxia (SCA) and Friedreich's ataxia (FRDA) are the most common forms of hereditary ataxia. Autosomal dominant genes express themselves when present. Autosomal recessive genes will only express themselves when in the homozygous state -- i.e., both genes in the gene pair are the recessive gene form. Thus, recessive genes can be "carried" by those whose phenotype does not exhibit the gene characteristic, while dominant genes cannot be "carried". Therefore, generally autosomal dominant ataxias are easier to express andat a higher morbiditythan autosomal recessive ataxias.
What is the role of Purkinje cells, where can we find those cells ?Purkinjecellsare a type of neuron found in the cerebellar cortex, at the base of the brain.They are among the largest neurons and are responsible for most of the electrochemical signaling in the cerebellum. ThePurkinjecellsand the cerebellum are essential to the body's motor function. Disorders involving thePurkinjecellsusually negatively affect the patient's movements.
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