Spinocerebellar ataxia is a life long condition caused by a genetic mutation. The diagnosis refers to a number of neurodegenerative disorders that lead to progressive clumsiness, muscle atrophy and loss of control of movement. More than 30 types of spinocerebellar ataxia exists, with each one being caused by a different genetic mutation. It remains a rare disease, although is one of the most common diseases caused by genetic mutations.
Currently there is no cure for spinocerebellar ataxia. It is a lifelong progressive and irreversible disorder with sufferers experiencing a reduction in coordination and gait and an increase in involuntary movements, jerks and tremors. Treatment is geared towards controlling the symptoms that arise as a result of the disease.
The life expectancy of sufferers of spinocerebellar ataxia can vary depending on the cause of the disease and the specific genetic mutation. In general spinocerebellar ataxia is an extremely life limiting disease with an average life expectancy of 19-25 years. The most common cause of death results from degeneration of the cerebellum. The cerebellum is located just behind the brainstem. As it degenerates the sufferer experiences progressive atrophy, or muscle wasting, leading to difficulties with swallowing, breathing and normal movement. In some cases, the spinocerebellar ataxia may be slow progressing, with some sufferers living into their 50’s although this results in a low quality of life with spinal atrophy leading to spasticity.
Another common cause of death for sufferers of spinocerebellar ataxia is their enhanced vulnerability to cancer and infection. Death often results from lymphoreticular malignancy or respiratory infections.
Advances in cancer care and early diagnosis has improved the outlook for suffers of lymphoreticular malignancy, that is cancer such as non-hodgkin’s lymphoma or lymphocytic leukaemia. If the cancer can be diagnosed and treated early, then the prognosis is more positive. However, malignancies are prone to recurrence with a less favourable outcome expected for secondary diagnoses.
Respiratory infections such as lung disease and pneumonia can be difficult to diagnose and treat in individuals with spinocerebellar ataxia. Severe dysphagia is a common ailment in sufferers of the disease and this contributes to the incidence of acute and chronic lung disease. Due to the inability to move adequately and the inability to breathe deeply or independently, pneumonia is commonly suffered by those with spinocerebellar ataxia. This is a disease that is often fatal if not treated quickly, usually with antibiotics and preferably in hospital. Even with treatment, pneumonia can and does lead to death.
Spinocerebellar ataxia is a devastating disease that severely limits life expectancy. Death usually occurs from co-morbid conditions rather from the disease itself, with mortality arising from cancer, chemotherapy side effects, infections and muscle atrophy leading to problems with breathing and swallowing. Whilst there is currently no cure for the disease, medical advancements are helping to improve the prognosis through treatment of the associated diseases and co-morbidities helping to prolong the life of the sufferer.