Friedreich`s Ataxia
Description
Friedreich‘s ataxia (FA) is a rare, inherited neurological disorder that primarily affects the nervous system. It causes progressive damage to the spinal cord and peripheral nerves, leading to a decline in coordination, balance, and muscle strength. This article delves into the intricacies of FA, covering its causes, symptoms, diagnosis, management, and how individuals can thrive despite the challenges it presents.
Genes Involved
Genes Involved in Friedreich‘s Ataxia:
The primary gene responsible for Friedreich‘s ataxia is the FXN gene, located on chromosome 9. This gene provides instructions for making a protein called frataxin, essential for mitochondrial function. Mutations in the FXN gene lead to a deficiency in frataxin, causing damage to the nervous system and other tissues.
Recognizing the Signs and Symptoms
Recognizing the Signs and Symptoms of Friedreich‘s Ataxia:
- Progressive Ataxia: Difficulty with coordination and balance, making walking, running, and fine motor skills challenging.
- Muscle Weakness: Weakness in the arms, legs, and trunk, leading to fatigue and difficulty with physical activities.
- Speech Difficulty: Slurred speech or difficulties articulating words.
- Sensory Loss: Numbness, tingling, or loss of sensation in the hands and feet.
- Cardiomyopathy: Heart muscle weakness, potentially leading to heart problems.
- Scoliosis: Curvature of the spine, affecting posture and mobility.
- Diabetes: Increased risk of developing type 2 diabetes.
- Foot Deformities: High arches, hammer toes, or clubfoot.
- Vision Loss: Eye movement problems or optic atrophy.
Causes
Causes of Friedreich‘s Ataxia:
Friedreich‘s ataxia is caused by an inherited genetic mutation in the FXN gene. This mutation leads to a deficiency in the frataxin protein, which is crucial for mitochondrial function. Mitochondria are responsible for energy production within cells. Without sufficient frataxin, mitochondria are unable to function properly, resulting in cell damage, particularly in the nervous system.
Inheritance/recurrence risk
Inheritance and Recurrence Risk of Friedreich‘s Ataxia:
Friedreich‘s ataxia is inherited in an autosomal recessive pattern. This means that an individual must inherit two copies of the mutated FXN gene, one from each parent, to develop the disorder. If both parents carry one copy of the mutated gene, there is a 25% chance their child will inherit two copies and develop FA, a 50% chance their child will inherit one copy and be a carrier, and a 25% chance their child will inherit two normal copies.
