Ataxia
Ataxia is a degenerative disease of the nervous system. Many symptoms of Ataxia mimic those of being drunk, such as slurred speech, stumbling, falling, and incoordination. These symptoms are caused by damage to the cerebellum, the part of the brain that is responsible for coordinating movement. People affected by it may experience problems with using their fingers and hands, arms, legs, walking, speaking or moving their eyes. It could affect people of all ages.
Types –
There are many different types of ataxia. The symptoms and their reason for developing determine the classification. Knowing the type can help doctors evaluate the condition and define a treatment plan.
• Ataxia telangiectasia (AT)
Also known as Louis-Bar Syndrome, AT is an inherited condition. It typically develops in babies or young children. A common symptom of this type of ataxia is the appearance of enlarged (dilated) blood vessels known as telangiectasias in the eyes and on the skin of the face. Children with AT have symptoms including increasing difficulty walking, coordinating movements, looking from side to side, and trouble speaking. AT can weaken the immune system.
• Episodic ataxia
With episodic ataxia, people have recurring troubles with movement and balance. These episodes can happen multiple times per day, or just one or two times a year. Episodic ataxia can develop at any age. Its causes include stress, medications, alcohol, illness, and physical exertion.
• Friedreich’s ataxia
In addition to worsening movement problems, people with Friedreich’s ataxia experience stiff muscles and gradually lose strength and feeling in their arms and legs. People with this type of ataxia often also have a heart condition that weakens the heart muscle (hypertrophic cardiomyopathy). Friedreich’s ataxia is the most common type of genetic ataxia. It typically develops between ages 5 and 15.
• Multiple system atrophy (MSA)
MSA is a form of parkinsonism that affects movement and the part of your nervous system that controls involuntary body functions (autonomic nervous system). These functions include things such as regulating your blood pressure and urinary control. The most common symptoms of MSA include difficulty coordinating movements, a rapid blood pressure drop when you stand up, trouble urinating, and, in men, erectile dysfunction. MSA typically develops in adults aged 30 and older.
• Spinocerebellar ataxia
Spinocerebellar ataxia is a genetic ataxia. In addition to the typical movement and balance problems associated with ataxia, people with this condition tend to develop weakness and loss of sensation, and some types cause difficulty with eye movements. Symptoms of spinocerebellar ataxia can develop at any age. It often progresses more slowly than other types of ataxia.
Symptoms –
It’s symptoms depend on the type of the condition a person has. In most cases, people with ataxia appear “clumsy.”
Symptoms can include –
• problems with coordination and balance, which can include clumsiness, an unsteady gait, and frequent falling
• trouble with fine motor tasks, such as writing, picking up small objects, or buttoning clothes
• slurred or unclear speech
• tremors or muscle spasms
• difficulties with eating or swallowing
• unusual eye movements, such as slower than normal eye movement or nystagmus, a type of involuntary eye movement
It’s important to remember that it’s symptoms can vary by the type of ataxia as well as its severity.
Causes –
This condition develops when there is damage to the cerebellum (the part of the brain that coordinates movement). There are numerous causes of such degenerative disease, either due to an acute injury or infection, or a chronic degenerative process.
The main categories that causes such degenerative disease are:
• Acquired ataxia
Caused by external factors including trauma, vitamin deficiencies, exposure to alcohol or drugs, infections, or cancers.
• Genetic ataxia
Occurs when a person has a damaged gene that is passed down among family members.
• Idiopathic ataxia
Doctors cannot determine the cause of the condition.
Complications –
Progression of the different types of ataxia may vary with each specific syndrome. In the worst case scenario, the person may have untreatable rigidity, breathing trouble, or choking which can lead to death. Some of the most difficult symptoms require management with continuous positive airway pressure devices (CPAP), tracheostomy, or a feeding tube.
Falling or becoming chair- or bed-bound may lead to other life threatening complications, such as injury, pressure sores, infection, and blood clots. Dementia, behavioral problems, and depression may influence compliance and care.
Other complications may include:
• Spasticity
• Rigidity
• Tremor
• Pain
• Fatigue
• Low blood pressure with sitting or standing
• Bowel or bladder dysfunction
• Sexual dysfunction
Diagnosis –
Along with a thorough medical history, family history, and complete neurological and physical exam, these tests may be done:
• Lab tests (including blood and urine studies)
• Genetic testing. Tests done to determine if a person has certain gene changes (mutations) or chromosome changes which are known to increase risk for certain inherited conditions
• Magnetic resonance imaging (MRI). A test that uses large magnets, radiofrequency energy, and a computer to make detailed images of organs and structures in the body
Treatment –
The specific treatment will depend on it’s type and how severe it is. In some cases of acquired ataxia, treating the underlying cause, such as an infection or a vitamin deficiency, can ease symptoms.
There’s no cure for many kinds of ataxia. However, there are several interventions that may help ease or manage your symptoms and improve your quality of life.
These include –
▪︎ Medications.
Some medications can help treat the symptoms that occur with ataxia. Examples include –
• amitriptyline or gabapentin for nerve pain
• muscle relaxants for cramps or stiffness
• antidepressants for depression
▪︎ Assistive devices.
Assistive devices can include things like wheelchairs and walkers to help with mobility. Communication aids can help with speaking.
▪︎ Physical therapy.
Physical therapy can help you with mobility and balance. It can also help you maintain muscle strength and flexibility.
▪︎ Speech therapy.
With this type of therapy, a speech therapist will teach you techniques to help make your speech clearer.
▪︎ Occupational therapy.
Occupational therapy teaches you various strategies that you can use to make it easier to do your day-to-day activities.
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