Ataxia

Definition

Ataxia often occurs when parts of the nervous system that control movement are damaged. People with ataxia experience a failure of muscle control in their arms and legs, resulting in a lack of balance and coordination or a disturbance of gait. While the term ataxia is primarily used to describe this set of symptoms, it is sometimes also used to refer to a family of disorders. It is not, however, a specific diagnosis.

What are the causes of ataxia?

Most disorders that result in ataxia cause cells in the part of the brain called the cerebellum to degenerate, or atrophy. Sometimes the spine is also affected. The phrases cerebellar degeneration and spinocerebellar degeneration are used to describe changes that have taken place in a person’s nervous system; neither term constitutes a specific diagnosis. Cerebellar and spinocerebellar degeneration have many different causes. The age of onset of the resulting ataxia varies depending on the underlying cause of the degeneration.

Many ataxias are hereditary and are classified by chromosomal location and pattern of inheritance: autosomal dominant, in which the affected person inherits a normal gene from one parent and a faulty gene from the other parent; and autosomal recessive, in which both parents pass on a copy of the faulty gene. Among the more common inherited ataxias are Friedreich’s ataxia and Machado-Joseph disease. Sporadic ataxias can also occur in families with no prior history.

Ataxia can also be acquired. Conditions that can cause acquired ataxia include stroke, multiple sclerosis, tumors, alcoholism, peripheral neuropathy, metabolic disorders, and vitamin deficiencies.

Differential diagnosis

DRUGS:

  • Alcohol
  • Phenytoin
  • Sedatives
  • Organophosphates

METABOLIC/MEDICAL/MENTAL:

  • Wilson’s disease
  • Hypohyroid
  • Hypothyroid
  • Joubert syndrome (congenital ataxia with hypotonia, and oculomotor ataxia)
  • Vitamin B-12 deficinecy
  • Multiple sclerosis
  • Wernicke’s Encephalopathy
  • Myopathy
  • Hysteria

INFECTION/INFLAMMATION:

  • Meningomyelopathy
  • Diabetic neuropathy
  • Cerbral abscess
  • Aids

STRUCTURAL:

  • Vertebral-basilar artery ischemia
  • Tabes dorsalis
  • Cerebral neoplasm
  • Head trauma
  • Cerebal hemorrhage
  • Cerbral infarct
  • Paraneoplastic syndrome
  • Guillain-Barre syndrome
  • Frontal lobe lesions

Laboratory work up

The selection of diagnostic tests should be tailored to patients’ clinical presentation:

  • Serum levels of medications to rule out drug-induced ataxia:
    • Phenobarbital
    • lithium
    • Phenytoin
  • vitamin B6
  • vitamin B12 levels
  • thyroid-stimulating hormone (TSH)
  • Heavy metals
    • serum lead levels
    • serum mercury,
  • Infectious reasons:
    • HIV,
    • syphilis,
    • Lyme
    • toxoplasmosis serology
  • anti-GQ1b for Miller Fisher syndrome
  • If hereditary ataxia is suspected,
    • genetic test
    • Vitamin E levels (could be too high or too low)
    • betalipoproteinemia
    • α-fetoprotein (increased)
    • immunoglobulin is be low in ataxia telangiectasia
  • ataxia with oculomotor apraxia type 1
    • serum cholesterol (increased)
    • albumin (decreased)
  • oculomotor apraxia type 2
    • α-fetoprotein (increased0
  • Refsum disease
    • plasma phytanic acid (increased)
  • Cancer screening

Diagnostic tests

  • CT Scan
  • MRI

Management

Although treating the underlying cause is very important in controlling ataxia and worsening of the symptoms, but treatment of ataxia starts with supportive therapy and symptom control.

This may include:

  • speech and language therapy
  • physiotherapy to improve with movement disorders
  • occupational therapy to help you cope with the day-to-day problems
  • medication to control muscle, bladder, heart and eye problems

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