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The term ataxia describes a group of degenerative diseases of the central nervous system known as hereditary and sporadic ataxias, although it can also describe the symptoms too. The word actually means “without coordination”.


People with ataxia lose control of the muscles mainly in their legs and arms, although it can also affect the hands, fingers, body, speech and eye movements.



What is ataxia?


A term for a group of conditions that impact balance and speech, it commonly causes a gradual deterioration in both coordination and balance, leading to trouble in walking, although it can affect any part of the body.

There are three main kinds of ataxia, comprising Friedreich’s Ataxia, Spinocerebellar Ataxia and Ataxia Cerebellum. The time of onset and symptoms may vary according to type.


When was ataxia first discovered?


The condition was first reported in 1863 by German physician Nikolaus Friedreich. He described how the disease caused neurodegeneration, which manifested as a combination of difficulties in walking, muscle weakness, loss of sensation and impaired speech.


A specialist neurologist, he was also involved in the establishment of pathological research into spinal ataxia, muscular dystrophy and brain tumours.


He was the third generation of the family to be involved in medicine. His grandfather, pathologist Nicolaus Anton Friedreich, is remembered for his description of facial paralysis – later recognised as Bell’s palsy.


What are the symptoms of ataxia?


Although the symptoms can vary slightly, depending on the type of ataxia, the most common include coordination and balance problems. These are the bodily functions that are affected first.


Someone with ataxia may develop an unusual manner of walking, such as a wide-based gait. Poor coordination of legs, hands and arms is likely. As the disease progresses, difficulty in writing and eating are common, as is slurred speech. Another symptom can be slow eye movements.


Ataxia symptoms are varied and can appear to be caused by other conditions or medical problems. This is why anyone who feels they may have ataxia should always see their healthcare provider for an accurate diagnosis.


What are the different types?


Friedreich’s Ataxia is an inherited disorder affecting some of the body’s nerves. Caused by a gene defect that is inherited from both parents, the symptoms commonly begin in late childhood. They can include fatigue, trouble walking, changes in sensation and slowed speech – usually, they get worse over time.


Spinocerebellar ataxia is an inherited, neurodegenerative and progressive disease that mainly affects the cerebellum. It is also heterogeneous, which means different gene changes and mutations cause the same disease or condition. This is why it can be complex to diagnose.


Ataxia Cerebellum usually results from injury or damage to the cerebellum (the part of the brain that controls muscle coordination) or its connections. It manifests as a sudden inability to coordinate muscle movements, due to injury or disease.


Does ataxia cause sleep problems?


Health experts have recognised that sleep problems are common among patients with Spinocerebellar Ataxia. The cerebellum is the part of the brain at the back of the head, between the cerebrum and the brain stem. It is directly involved in our position, movement and muscle tone during periods of rest and sleep.


This explains the high prevalence of sleep disorders among people with Spinocerebellar Ataxia. More than 50% of this group report problems with sleeping, including restless leg syndrome, REM sleep behaviour disorder, periodic limb movements when sleeping and sleep apnoea.


Specialist sleeping solutions for people are recommended to improve safety, support and comfort. These include beds that can be electronically adjusted, with easier access and pressure-relieving mattresses.


How is ataxia diagnosed?


Your healthcare provider will require a thorough medical history and family history if ataxia is suspected. A complete neurological and physical examination will be carried out, in combination with various laboratory tests, including blood and urine studies.


Genetic testing can be done to determine if the person has specific gene changes and mutations or chromosome changes that can increase the risks for certain inherited conditions.


In addition, magnetic resonance imaging or MRI tests, using radiofrequency energy and a computer, will make detailed images of organs and structures in the body. These tests can rule out other conditions that can cause a decline in coordination.


Some medical conditions can cause ataxia to develop suddenly including a head injury, brain haemorrhage or stroke. In addition, exposure to certain drugs and infections, and also if the heart or breathing slow down, this can cause the rapid onset of ataxia.


Some conditions can cause ataxia to develop slowly such as alcohol abuse, chronic exposure to certain drugs, hypothyroidism, some vitamin deficiencies and multiple sclerosis.


Who is more likely to get ataxia?


People with a defective gene which makes abnormal proteins, causing nerve cell degeneration, are more likely to get ataxia. The muscles become less responsive to the commands of the brain as the disease progresses.


People who have had a stroke, or those with multiple sclerosis or tumours, can also be more prone to the disease. Alcoholics, people who have nerve damage or those with metabolic disorders can also develop ataxia.


In some cases, treating the underlying health condition that caused the ataxia might improve it.


What are the treatment options?


Unfortunately, there is currently no cure for hereditary ataxias, nor any medications to treat the specific symptoms of the disease itself.


If ataxia has begun due to a stroke, low vitamin levels, or exposure to a toxic chemical or drugs, the treatment is aimed at those specific conditions, rather than the ataxia itself.


Treatment for a lack of coordination or poor balance mainly involves using adaptive devices to allow the individual to maintain as much independence as possible. This can include using a cane, a walker, crutches or a wheelchair.


Other treatments include physical therapy, speech therapy and medication to help some symptoms such as stiffness, tremor, depression and sleep disorders.


Medical research is continuing into spinocerebellar and cerebellar degeneration, including work to find the causes of ataxias and ways to cure, treat and ultimately prevent them.

For more information on Ataxia: The How, What, When and Why talk to Kinderkey Healthcare Ltd

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