Spinal-cerebellar ataxia is a term for a group of diseases with a similar pathogenesis and course. The most common symptom of spinocerebellar ataxia is gait disturbance, but there may also be other symptoms. What are the causes and symptoms of ataxia? Are there methods that could improve the condition of patients?
Spinal-cerebellar ataxia(SCA for short, derived from the English term spinocerebellar ataxia) includes a group of neurological diseases with a tendency to progression, and medicine does not have effective methods of treatment.
Spinal-cerebellar ataxia is not a common disease - according to statistics for the United States, about 150,000 American patients suffer from this problem. These patients, however, may struggle with similar, but not necessarily completely identical, units - there are at least a dozen spinocerebellar ataxias, and what's more - other types of this disease are still being discovered.
SCA can occur in patients of both sexes - in both women and men. An interesting feature of these diseases is that in the case of different types of spinocerebellar ataxia, their first symptoms appear at different ages - in some types of SCA the first symptoms may appear already in very early childhood, in other types of the disease, any deviations may not appear until then. in the fifth or even sixth decade of the patient's life.
Spinal-cerebellar ataxia: causes
Spinal-cerebellar ataxias are classified as genetic diseases. It is most often assumed that in the case of SCA the inheritance pattern is autosomal dominant, but some authors - those who extend the diagnostic category and include a greater number of individuals in the group of spinocerebellar ataxia diseases - indicate that similar ailments may also occur in inherited units autosomal recessive or inherited through X-linked mutations.
Usually, after all, it is assumed that spinocerebellar ataxias are caused by dominant mutations located within autosomal chromosomes. Unfortunately, such a situation is not favorable becauseit carries a high risk that the person with the mutation will pass it on to their offspring. This is because in the case of an autosomal dominant model of inheritance, the risk that a defective copy of a gene will be passed on to an offspring is as high as 50%.
The burden of a genetic mutation alone does not cause the patient to develop symptoms of spinocerebellar ataxia - all ailments occur only when the patient experiences the consequences of carrying the mutation.
In people diagnosed with spinocerebellar ataxia, the disease leads to a gradual, constantly progressive degenerative process, mainly concerning the cerebellum, but also other parts of the nervous system, such as structures of the brainstem or elements of the peripheral nervous system .
Spinal-cerebellar ataxia: symptoms
The ailments that occur in patients suffering from SCA are closely related to exactly where the pathological process is taking place. As mentioned above, in spinocerebellar ataxias, mainly the cerebellum is damaged.
This element of the brain is mainly responsible for the processes related to movement, therefore the symptoms of spinocerebellar ataxia are the most frequently mentioned disorders such as:
- balance problems
- difficulties with motor coordination
- gait disturbance
- Involuntary eye movements
- speech disorders (mainly in the form of dysarthria)
In the SCA group, however, there are many different units that differ from each other not only in what specific mutation causes them, but also in what other, additional ailments appear in their course. Generally, in the case of various spinocerebellar ataxia, the symptoms of these diseases may include the aforementioned ailments, but also, among others, parkinsonian symptoms, chorea movements or cognitive impairment and peripheral neuropathies.
The basic symptom of SCA diseases - that is, ataxia - is quite easy for neurologists. However, a much more difficult situation concerns the diagnosis of a specific spinocerebellar ataxia.
Spinal-cerebellar ataxia: diagnosis
You can suspect spinocerebellar ataxia after the neurological examination, but you can confirm the disease only after genetic testing.
SCA are often a certain diagnostic problem - there are indeed many types of this disease, although not all of them have already discovered a specific mutation that leads to them.
Therefore only for partsspinocerebellar ataxia (e.g. in SCA 3, considered the most common unit in this group, also known as Machado-Joseph disease), it is possible to finally confirm the initial diagnosis.
Spinal-cerebellar ataxia: treatment
Currently, medicine does not have any methods of causal treatment of spinocerebellar ataxia, i.e. methods that would allow the elimination of mutations existing in patients.
Research using stem cells in the treatment of SCA is ongoing (on an increasingly large scale), although it will probably be some time before these therapies can actually help patients.
Patients with spinocerebellar ataxia are definitely not left to fend for themselves - symptomatic treatment (focusing on managing other ailments alongside ataxia, such as parkinsonism) plays a very important role.
It is necessary to mention one more method, which is extremely important for patients diagnosed with spinocerebellar ataxia.
Rehabilitation, because we are talking about it here, is very important for these patients, because regular use of it allows patients to maintain the highest level of fitness for as long as possible.
The role of rehabilitation in SCA can be convinced by the fact that this disease can quite quickly - even within 10-15 years - force the patient to use auxiliary equipment, such as a wheelchair, during everyday activities disabled.
Such a necessity can be delayed thanks to rehabilitation, which is why its importance in the lives of patients suffering from spinocerebellar ataxia is so emphasized.
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