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Please note: This is a basic revision aid, not a comprehensive and reliable statement of medical fact. These notes should not be used to guide treatment. Reliable medical information and advice should be sought from a qualified medical practitioner.
Very rare -- approx. 1:50000
10-12 years is mean age of onset. Can be as early as 18 months or as late as 30 years.
Autosomal recessive disorder (i.e. if both parents are carriers, there is a 25% chance of developing FA and a 50% chance of being a carrier. If both parents have FA, all children will have FA. If one parent has FA, all children will be carriers but none will develop FA. If one parent is a carrier, there is a 50% chance of a child being a carrier, but not developing FA). See our separate guide to genetic conditions for a fuller explanation. FA is caused by a deficit in a protein called frataxin (named after the disease), normally found in the nervous system, the heart, and the pancreas. There are also unusually high levels of iron in heart tissue.
Progressive sclerosis of dorsal and lateral columns of the spinal cord.
Progressive ataxia (usually of legs, then arms, then trunk) -- walking is usually the first area of difficulty, often characterised by a wide based, unsteady gait. Also, tendon areflexia, common skeletal deformities such as kyphoscoliosis and pes cavus (high arched feet). Muscle weakness. Increasing problems with gait. Speech problems. Common cardiomyopathy (in approx. 2/3 of cases). May also include tremor, difficulties with fine movements, mildly impaired vision and hearing and diabetes (in 10% of cases.) No cognitive impairment.
Variable course featuring increased disability and reduced mobility often necessitating wheelchair use after 15-20 years. Heart disease is the most common cause of death in early adulthood.
No effective treatment or cure for the disease itself, but many of the symptoms can be treated, such as management of diabetes; surgical or orthotic intervention for orthopaedic deformities; physiotherapy, speech therapy and OT.
Genetic counselling is essential.
There is likely to be a need for intervention to support mobility, perhaps necessitating wheelchair use at a later stage. Regular reassessment of ADL abilities is important. Modifications to the home environment may be needed. Postural support may need to be addressed, perhaps with special seating. There may be psychological difficulties around loss of roles, and adjusting to the implications of the condition. Sensory impairment issues may arise, perhaps indicating a need for hearing equipment or special lighting. If cardiomyopathy is present, reduced exercise tolerance will need to be considered in all aspects of OT intervention.
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Last updated: 12th September 2004
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