SPINOCEREBELLAR DEGENERATION (FRIEDREICH ATAXIA)
Abstract:
Friedreich ataxia is a rare autosomal recessive
hereditary disorder. The mutated gene is localized in the
proximal long arm of chromosome 9. It is characterized
by progressive degeneration of the spinocerebelar,
corticospinal and posterior columns of the spinal cord.
The typical age of onset is between 5 and 15 years.
Clinically, it is characterized by gait ataxia, pyramidal
syndrome, sensitive syndrome, the reflexes are modified,
trophic, psychic and cardiac changes occur. Ataxia is of
mixed cerebellar and sensory type. Later in illness, gait is
possible only with bilateral support. The characteristic
foot deformity takes the form of high plantar arch with
retraction of the toes at the metatarsophalangeal joints
and flexion at the interphalangeal joints. Later, dilated
cardiomyopathy could be found. The evolution is slow
progressive, the death is due to cardiac arrhythmia and
congestive heart failure. Specific treatment does not exist.
Idebenone, an antioxidant, reduces the progression of the
left ventricular hypertrophy.
full text article in English (.EN) |