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Ataxia

Ataxia Treatment in Delhi, India

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Overview

Ataxia is a condition of poor muscle control, which leads to involuntary and clumsy movement. Patients may have difficulty walking, making hand coordination, speech and swallowing, eye movement, and maintaining balance. It occurs mostly when the cerebellum is damaged, which can happen due to stroke, head injury, and long-term alcohol consumption. 

Types

Ataxia is classified into three types based on their cause:

  1. Inherited Ataxia: As the name suggests, inherited ataxia develops from mutations in certain genes, which are received from parents, thus causing ataxia. It is of two types-
    • Dominant Ataxia: In dominantly inherited Ataxia, only one copy of the mutated gene is required to develop this condition, and the mutated gene can come from any parent.
    • Recessive: In this condition, two copies of the mutated gene are inherited, one from each parent. This condition is relatively rare because the chances of both parents having mutated ataxia gene is comparatively lower than one parent having it.
  2. Acquired Ataxia: Acquired ataxia is caused by nerve damage caused due to head injury, infections like HIV, stroke, etc.
  3. Idiopathic Ataxia: No causative agent has been discovered for nerve injury. 

Symptoms

Ataxia can either develop over time or can occur suddenly. Some of its symptoms are:

  • Walking unsteadily
  • Poor coordination
  • Poor balance
  • Difficulty with motor tasks, such as eating, writing, or buttoning a shirt
  • Change in speech
  • Involuntary back-and-forth eye movements (Nystagmus)
  • Difficulty swallowing

Hereditary Ataxia will have different signs and symptoms depending on the mutation. It causes the following symptoms:

  • Scoliosis
  • Weakened heart muscle
  • High arching feet

Causes

The cerebellum and its connected organs are responsible for proper movement and posture to maintain balance. If damaged, it can lead to ataxia.

  1. Hereditary Ataxia: It is caused by mutated genes which develop abnormal proteins. These proteins hamper the proper functioning of the nervous tissues or degenerate them. As the disease progresses, the symptoms will worsen. Usually, it affects the cerebellum and spinal cord.
  2. Idiopathic Ataxia: Unknown cause.
  3. Acquired Ataxia: It is caused due to the following reasons:
    • Head injury
    • Stroke
    • Brain Tumour
    • Infections, such as meningitis, HIV, and chickenpox
    • Cerebral palsy
    • Degenerative diseases such as multiple system atrophy can cause ataxia in adults near age 50
    • Autoimmune conditions, such as multiple sclerosis, may cause Ataxia
    • An underactive thyroid (hypothyroidism)
    • Vitamin deficiencies, including vitamin B12, Vitamin B-6, vitamin E, and thiamine, can cause Ataxia. This type of Ataxia is reversible.
    • As a potential side effect of certain medications, especially barbiturates, sedatives, antiepileptic drugs, and some types of chemotherapy.
    • Poisoning from heavy metals, like lead or mercury.
    • Excessive alcohol intake

Risk Factors

Risk factors that can lead to Ataxia are:

  • Viral infections like the Coxsackie virus, Epstein-Barr, or HIV
  • Bacterial infections such as Lyme disease
  • Exposure to certain toxins, like lead, mercury, thallium, alcohol, and organophosphates found in insecticides
  • Long term Alcohol consumption
  • Vitamin Deficiency
  • Head Injury
  • Poor cardiovascular health

Diagnosis

The doctor will need the medical history. They'll ask whether a patient has a family history of inherited ataxia. The first step is to find a treatable cause. The doctor may also inquire about the medications and alcohol intake. They will then conduct physical and neurological examinations.

Tests can help doctors and medical professionals check things like co-ordination, balance, movement, reflexes, muscle strength, memory and concentration, vision, hearing.

The Neurologist may prescribe the following tests:

  • Imaging tests: A CT or MRI scan creates detailed images of the brain, which can be used by doctors to see any abnormality.
  • Blood tests: In order to rule out infection, vitamin deficiency, hypothyroidism, etc.
  • Lumbar puncture: With a lumbar puncture, a cerebrospinal fluid (CSF) sample is collected. The sample is sent for biopsy.
  • Genetic testing: Many types of hereditary ataxias can be tested genetically. A blood sample is used in this sort of testing to determine whether a patient has genetic alterations associated with inherited Ataxia.

Treatment

In the case of acquired Ataxia, treating the underlying cause, such as an infection or a vitamin deficiency, can ease symptoms. But that is not possible with all types of acquired Ataxia.

There's no cure for a few types of Ataxia. However, several interventions may help ease the symptoms and improve the quality of life. These include:

  • Medications: Few medications can help treat the symptoms that occur with ataxia. For example:
    • Amitriptyline or Gabapentin for nerve pain
    • Muscle relaxants for cramps or stiffness
    • Antidepressants for depression
    • PDE-5 inhibitor for Erectile Dysfunction
  • Assistive devices: Wheelchairs and walkers can help with mobility. Communication aids can help with speaking.
  • Physical therapy: It can help the patient with mobility and balance. It can also help the patient prevent the weakening of muscles and reduction of flexibility.
  • Speech therapy: A language and speech therapist can help with two of the most prevalent symptoms of Ataxia: slurred speech (dysarthria) and swallowing difficulties (dysphagia). A nutritionist may also be referred to the patient for nutritional guidance. For example, their diet may need to contain easier-to-swallow foods.
  • Occupational therapy: Occupational therapy teaches various strategies to adapt to the loss of mobility and make it easier to do day-to-day activities. The therapist may be able to teach the patient how to use a wheelchair and other mobility devices. They can also advise on home changes, such as adding guide rails or a stairlift, to make their life easier.
  • Therapy: Ataxia, in some situations, causes depression. The patient's primary care physician and therapist can help manage the symptoms.

Complication:

Complications of Ataxia can be:

  • Difficulty in breathing and choking while eating can lead to death
  • Decreased movement can lead to pressure sores, injury, and clots
  • Cannot walk properly
  • May need lifelong support for daily activities
  • Patients with other memory and behavioural problems, such as dementia, may not be compliant with care
  • Depression
  • Constant Fatigue
  • Erectile dysfunction

Review

Reviewed by Dr. Sanjay Saxena, Senior Director & HOD, Neurosciences, Neurology.


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