What is Friedreich's ataxia ?
Friedreich's ataxia is an
inherited disease that causes progressive damage to the nervous
system resulting in symptoms ranging from gait disturbance and
speech problems to heart disease.
Generally, ataxia is a symptom of coordination
problems such as clumsy or awkward movements and unsteadiness and
occurs in many different diseases and conditions. The ataxia of
Friedreich's ataxia results from the degeneration of nerve tissue
in the spinal cord, in particular sensory neurons essential
(through connections with the cerebellum) for directing muscle
movement of the arms and legs. The spinal cord becomes thinner and
nerve cells lose some of their myelin sheath (the insular covering
on some nerve cells that helps conduct nerve impulses).
Symptoms
Symptoms typically begin sometime between the ages of 5 to 15
years, but in Late Onset FA may occur in the 20s or 30s. Symptoms
include any combination, but not necessarily all, of the
following:
* Muscle weakness in the arms and legs
* Loss of coordination
* Vision impairment
* Hearing loss
* Slurred speech
* Curvature of the spine (scoliosis)
* High plantar arches ( pes cavus deformity of the foot)
* Diabetes
* Heart disorders (e.g., atrial fibrillation, and resultant
tachycardia (fast heart rate) and hypertrophic cardiomyopathy )
It presents before 25 years of age with progressive staggering or
stumbling gait and frequent falling. Lower extremities are more
severely involved.
These symptoms are slow and progressive. Long-term observation
shows that many patients reach a plateau in symptoms in the
patient's early adulthood.
Treatment
A person suffering from Friedrich's Ataxia may require some
surgical interventions (mainly for the spine and heart). Often a
metal rod is inserted in the spine to help prevent or slow the
progression of scoliosis. As progression of ataxia occurs,
assistive devices such as a cane, walker, or wheelchair are
required for mobility and independence. Other assistive
technology, such as a standing frame, can help reduce the
secondary complications of prolonged use of a wheelchair.
People suffer from several different illnesses
that affect the way the central nervous system works
Degeneration of nerve
tissue in the spinal cord
Surgical interventions
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