A 9 year old female patient has come for routine dental examination. She is unable to articulate her words properly. General examination reveals muscle weakness and stiffness, irregular gait, uncoordinated and involuntary movements, chewing and swallowing difficulties as well as speech problems. Which of the following may not be an etiologic factor for this condition?
A 9 year old female patient has come for routine dental examination. She is unable to articulate her words properly. General examination reveals muscle weakness and stiffness, irregular gait, uncoordinated and involuntary movements, chewing and swallowing difficulties as well as speech problems. Which of the following may not be an etiologic factor for this condition?
💡 Explanation
**Core Concept**
The patient's symptoms, including muscle weakness, stiffness, and involuntary movements, suggest a neuromuscular disorder. The key concept here is the relationship between the patient's symptoms and potential etiologic factors, specifically those related to hereditary conditions.
**Why the Correct Answer is Right**
The patient's symptoms are consistent with a diagnosis of **Friedreich's Ataxia**, a genetic disorder caused by a deficiency in the **frataxin protein**. This protein is essential for maintaining mitochondrial function and preventing iron accumulation in the mitochondria. The deficiency leads to progressive damage to the **spinal cord**, **cerebellum**, and **peripheral nerves**, resulting in the patient's symptoms. **Frataxin** is encoded by the **FXN gene**, and mutations in this gene are responsible for the condition.
**Why Each Wrong Option is Incorrect**
* **Option A:** **Diet** may exacerbate symptoms in certain conditions, but it is unlikely to be a primary etiologic factor for Friedreich's Ataxia.
* **Option B:** **Toxins** can cause neurological symptoms, but there is no evidence to suggest that toxins are a primary cause of Friedreich's Ataxia.
* **Option C:** **Viral infections** can cause neurological symptoms, but they are not a primary etiologic factor for Friedreich's Ataxia.
**Clinical Pearl / High-Yield Fact**
Friedreich's Ataxia is an autosomal recessive disorder, meaning that two copies of the mutated gene (one from each parent) are required for the condition to manifest. It is essential to consider genetic testing for patients with suspected Friedreich's Ataxia, as early diagnosis can improve management and quality of life.
**Correct Answer:** D.
✓ Correct Answer: D. Hypothyroidism
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