Neurology is one of the most diverse and fascinating fields of medicine. In addition to diseases such as multiple sclerosis, Alzheimer’s disease and the well-known stroke, spinocerebellar ataxias are also of immense importance. These represent the generic term for a wide variety of disorders in the coordination of movements. The loss of nerve cells leads to a faulty interaction of the muscles.
What is Spinocerebellar Ataxia?
Spinocerebellar ataxias ( SCA ) describe a group of neurodegenerative diseases of the central nervous system ( CNS ) in humans. The neurons (nerve cells) of the cerebellum (cerebellum) and the spinal cord (medulla spinalis) progressively perish. Diseases of this type are extremely rare, occurring in the USA and Central Europe with an average frequency of one new case per hundred thousand inhabitants. For definition of ventricular fibrillation (ventricular flutter) in English, please visit acronymmonster.com.
The cause lies in the death of the Purkinje cells (the largest neurons of the cerebellum) due to the autosomal dominant inheritance of pathological genes. More than twenty-five different gene loci are currently known. The subgroups of spinocerebellar ataxia are defined according to these triggering genes and referred to as SCA type 1, type 2, type 3, or SCA1, SCA2, SCA3, etc.
Types 1, 2, 6, 7 and 17 belong to the group of trinucleotide diseases (such as Huntington ‘s disease), since the disease is caused by a mutation in the form of an unusually long triplet repeat (triplet = three consecutive nucleobases of a nucleic acid) of the codon CAG (which corresponds to the amino acid glutamine). Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease (MJD), accounts for thirty-five percent of autosomal dominant inherited cerebellar ataxias and is the most common form of this disease in Germany.
Symptoms, Ailments and Signs
The onset of the disease is in most cases between the ages of 30 and 40. Cardinal symptom is the lack of coordination of movements ( ataxia ). Patients complain about the resulting insecurity when walking and standing, as well as the awkward gripping of objects.
In addition, there is a change in the speech melody ( dysarthria ) and a movement disorder of the eyes (nystagmus). Depending on the subgroups of spinocerebellar ataxia, there are also symptoms that appear depending on the involvement of other brain regions, for example, muscle spasms, spasticity (pathological increase in muscle tone).
Also memory disorders (dementia), sensory disturbances and abnormal sensations, swallowing disorders, incontinence, deterioration of vision, slowing of movements and restless legs ( restless legs syndrome ). Some patients have Parkinson’s-like symptoms that respond well to drugs used to treat Parkinson ‘s disease.
Diagnosis & course of disease
The diagnosis is based on the detailed anamnesis, clinical-neurological examinations and additional findings ( e.g. CSF examination, magnetic resonance imaging and neurophysiological examination) in order to rule out other possible diseases. A molecular genetic examination is urgently needed to confirm the diagnosis.
It is often difficult, if not impossible, to determine what type of ataxia you have since they differ only slightly. As the disease progresses, symptoms increase until the disease (in most cases) leads to the death of the patient.
Depending on the form of the disease, spinocerebellar ataxia can cause various complications. In general, ataxias result in muscle spasms, spasmodic convulsions, and changes in the intonation of speech. Memory disorders can also occur, which can later develop into dementia.
The slowing down of movement sequences often represents a significant limitation in everyday life for those affected. In connection with other complications, such as the typical deterioration in vision, ataxia sometimes also causes mental suffering. Regardless of the form of the disease, the symptoms increase as the disease progresses. In most cases, spinocerebellar ataxia leads to the death of the patient. Treating a neurological disorder also carries risks.
Drug therapy is always associated with certain side effects and interactions for those affected. The same applies to ergotherapy and physiotherapy, which are occasionally associated with tension, sore muscles and minor injuries. Surgical interventions are rare in spincerebellar ataxia, but can lead to infections, bleeding, secondary bleeding, infections and wound healing disorders. If the procedure goes poorly, the original disorder may also worsen.
When should you go to the doctor?
As a rule, the patient with this disease is always dependent on medical treatment by a doctor. Above all, early diagnosis with early treatment has a very positive effect on the further course. This is the only way to prevent further complications, since this disease cannot heal itself.
A doctor should be consulted if the person affected has problems with movement and coordination. As a rule, patients cannot easily walk straight or reach for things properly. Muscle cramps or spasticity can also indicate this disease. Many of those affected also suffer from swallowing difficulties or even incontinence and other discomfort.
The disease can be diagnosed by a general practitioner. For further treatment, however, a visit to a specialist is usually necessary. It is also not universally possible to predict whether complete healing can occur.
Treatment & Therapy
A causal therapy for spinocerebellar ataxia is not known to date. The focus is on symptomatic treatment in the sense of maintaining function in order to preserve the patient’s quality of life for as long as possible. These include medication, occupational and physical therapy, and speech therapy.
According to the German Society for Neurology (DGN), a pilot study showed that cerebellar ataxia responded to the active ingredient riluzole. Although research on spinocerebellar ataxias has been intensified in recent years, it has not progressed so far that curative therapy can be expected in the near future.
In ergotherapy and physiotherapy, the mobility of the individual parts of the body is maintained, weakening muscles are strengthened and the formation of synapses is stimulated. Activities of daily living are practiced in order to maintain the patient’s independence as much as possible. Speech therapy works on existing language problems.
Since it is a genetic disease, any form of prevention is impossible.
The collective term ‘spinocerebellar ataxia’ refers to genetically determined clinical pictures in which the nervous system is affected. Disturbed motor processes up to late-stage dementia are typical symptoms. In contrast to other hereditary diseases, the symptoms do not only appear in childhood. On average, ataxia breaks out at an age of 30 to 40 years, in some patients earlier or only after the age of 50 to 60. Up to this point, the patient was symptom-free.
At present, spinocerebellar ataxia cannot be cured. The disease is chronic and always fatal. The aftercare is to alleviate the symptoms, the patient should be able to lead a largely normal life. Parallel, psychotherapeutic support makes sense for those affected, since the illness can be accompanied by psychological stress.
Relatives also have the opportunity to be supported by a psychotherapist. The mobility of the limbs should be maintained through the exercises. If the speech center is affected by the neurological deficits, logopedic therapies are recommended. The follow-up measures are long-term, they accompany the patient from the onset to the late stage of the disease. Follow-up care only makes sense if it is carried out consistently over the years.
You can do that yourself
In the case of spinocerebellar ataxia, the focus is on medical and physiotherapeutic treatment. At the same time, patients can do a few things to make everyday life with the disease easier.
The coordination disorder restricts those affected considerably in everyday life. Therefore, the most important measure is to compensate for the limitations and to support the sick person as well as possible. In most cases it is necessary to move to an apartment suitable for the disabled. The increasing movement restrictions also require a walking aid for the patient. Affected people need support in everyday life, since even simple activities can usually no longer be carried out without outside help. Those affected should read specialist literature on spinocerebellar ataxia in order to better understand and accept the disease.
It is also advisable to talk to other people affected, for example as part of a self-help group for people with Parkinson’s. In the later stages of the disease, outpatient and eventually inpatient care is necessary. In the final stages of the disease, when movements and conversations become increasingly difficult, comprehensive therapeutic care can also be useful for the patient and his family.