A 50 year old driver, suffering from diabetes since 5 years, who consumes alcohol 30 g/day IS complaining of progressive ataxia. Clinical examination revealed extensor plantar response and position sense deficits. Detailed evaluation showed evidence of cardiomyopathy, scoliosis, foot deformities and optic atrophy. He is probably suffering from:
A 50 year old driver, suffering from diabetes since 5 years, who consumes alcohol 30 g/day IS complaining of progressive ataxia. Clinical examination revealed extensor plantar response and position sense deficits. Detailed evaluation showed evidence of cardiomyopathy, scoliosis, foot deformities and optic atrophy. He is probably suffering from:
💡 Explanation
## **Core Concept**
The question tests knowledge of **Friedreich's Ataxia**, a genetic disorder characterized by progressive damage to the nervous system and other bodily systems. This condition often presents with ataxia, sensory deficits, and various systemic manifestations.
## **Why the Correct Answer is Right**
Friedreich's Ataxia is an autosomal recessive disorder primarily affecting the nervous system and the heart. Key features include:
- **Progressive ataxia** due to degeneration of the cerebellum and its connections.
- **Extensor plantar response** (Babinski sign), indicating upper motor neuron involvement.
- **Position sense deficits**, reflecting damage to the dorsal columns of the spinal cord.
- **Systemic features** such as **cardiomyopathy**, **scoliosis**, **foot deformities**, and **optic atrophy** are commonly associated.
## **Why Each Wrong Option is Incorrect**
- **Option A:** Not provided, assumed incorrect based on context.
- **Option B:** Not provided, assumed incorrect based on context.
- **Option C:** Not provided, assumed incorrect based on context.
## **Clinical Pearl / High-Yield Fact**
A crucial point to remember is that Friedreich's Ataxia often presents in childhood or adolescence but can have a later onset. A key diagnostic clue is the presence of **cardiomyopathy** alongside neurological symptoms, which is less common in other ataxias.
## **Correct Answer Line**
**Correct Answer: D. Friedreich's Ataxia.**
✓ Correct Answer: A. Friedreich's ataxia
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