ATAXIC DISORDERS

ATAXIC DISORDERS

Ataxia - lack of muscle coordination during voluntary movements, such as walking or picking up objects. A sign of an underlying condition, ataxia can affect your movements, your speech, your eye movements and your ability to swallow. - Autosomal recessive

Ataxia Telangiectasia- Autosomal recessive due to defect of chromosome 11 which results in progressive cerebellar degeneration

Multisystem disease with neurologic, immunologic and endocrine aspects; increased risk for cancer particularly brain tumor

Signs and symptomsi. Telangiectasia (red vascular markings) appear in the conjunctiva and skin at the flexor creases

ii.Serum IgA and IgE levels may be low, reduced T-cell function

iii.Children develop an awkward gait when they begin to walk

iv.Choreoanthetosis (rapid, purposeless movements)v. Nystagmus, an intention tremor, scoliosis

vi.Inability to move eyes on demand or follow movement through visual fields

vii. Eye changes (conjuctival telangiectasia) develop by 5 years of age

No effective treatment; often die in late adolescence of infection, respiratory failure, or a malignant tumor

Friedreichs Ataxia Autosomal recessive carried on the short arm of chromosome 9

Signs and symptoms

- Progressive cerebellar and spinal cord dysfunction in late adolescence

- Teenagers develop progressive gait disturbance or a lack of coordinated arm movements

Signs and symptoms

High-arched foot (pes cavus), hammer toes, and scoliosis

Combined symptoms of (+) Babinski reflex, absence of ankle DTRs and ataxia are strongly diagnostic

Difficulty in recognizing foot position

Treatment If ataxia is untreated, death occurs in young adulthood from myocardial failure

Antioxidant therapy such as high-dose idebenone may help to delay this outcome by reducing ventricular hypertrophy