Friedreich's ataxia

FRDA has an autosomal recessive pattern of inheritance.

Nikolaus Friedreich

Friedreich's ataxia (FRDA or FA) is an autosomal recessive genetic disorder characterized by progressive damage to the nervous system. It manifests in difficulty with walking, loss of sensation in the arms and legs, and impaired speech (Dysarthria), with symptoms typically emerging between the ages of 5 and 15. The condition often necessitates the use of mobility aids such as canes, walkers, or wheelchairs in teenage years due to increasing mobility challenges.

Genetics

FRDA is caused by mutations in the FXN gene, which leads to reduced production of frataxin, a protein essential for cellular energy production and iron regulation in the mitochondria. The autosomal recessive pattern of inheritance means that an individual must inherit two copies of the mutated gene, one from each parent, to develop the condition.

Symptoms and Progression

The hallmark symptom of FRDA is ataxia, or coordination and balance problems, due to the degeneration of nerve tissue in the spinal cord and nerves that control muscle movement in the arms and legs. Initial signs often include difficulty in walking, changes in speech, and a loss of reflexes. As the disease progresses, individuals may develop hypertrophic cardiomyopathy (a form of heart disease), scoliosis (curvature of the spine), and diabetes mellitus.

Sensory loss in the extremities worsens over time, leading to a decreased ability to feel vibrations and touch. Vision and hearing loss can also occur as the disease advances.

Diagnosis

Diagnosis of FRDA is primarily based on clinical assessment, family history, and genetic testing to identify mutations in the FXN gene. Additional tests, including echocardiograms, electrocardiograms, and glucose tolerance tests, may be conducted to detect associated conditions such as cardiomyopathy and diabetes.

Treatment and Management

There is no cure for Friedreich's ataxia, but treatment focuses on managing symptoms and improving quality of life. This may include the use of mobility aids, physical therapy to maintain muscle strength and coordination, and medications to manage heart problems and diabetes. Surgical interventions for scoliosis and other complications may be necessary in some cases.

Speech therapy and assistive devices can help manage communication difficulties, while regular monitoring and treatment of heart disease and diabetes are crucial for maintaining health.

Prognosis

The progression of FRDA varies between individuals. Most people with the condition become wheelchair-bound within 15 to 20 years after the onset of symptoms. Life expectancy can be reduced, primarily due to heart disease, but many individuals with FRDA live into their 60s or beyond with proper medical care.

Research

Ongoing research aims to find effective treatments and a potential cure for FRDA. Efforts include gene therapy, antioxidants, and medications designed to increase frataxin production or improve mitochondrial function.

See Also

• Genetic disorders
• Ataxia
• Neurodegenerative diseases
• Mitochondrial diseases

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