Question 1

What is the Meaning of Kennedy's Disease?

Accepted Answer

Kennedy's Disease, also known as Spinal and Bulbar Muscular Atrophy (SBMA), is a rare, X-linked recessive neurodegenerative disorder. This condition primarily affects motor neurons in the brainstem and spinal cord, causing progressive muscle weakness and atrophy. It also impacts sensory neurons and presents with specific endocrine manifestations due to its underlying genetic origin.

Question 2

What is the Context of Kennedy's Disease?

Accepted Answer

This genetic disorder operates within the nervous system, specifically targeting lower motor neurons responsible for voluntary muscle control. The condition arises from a mutation within the androgen receptor gene, located on the X chromosome. This genetic defect disrupts cellular processes vital for neuronal function and survival, linking androgen signaling directly to neurological integrity.

Question 3

What is the Significance of Kennedy's Disease?

Accepted Answer

The clinical importance of Kennedy's Disease stems from its progressive impact on patient mobility and vital functions. Timely identification of symptoms like muscle weakness, tremors, and dysphagia is crucial for effective supportive care. Understanding this condition contributes to knowledge regarding neurodegenerative pathways and steroid hormone receptor influence on neurological health.

Question 4

What is the Mechanism of Kennedy's Disease?

Accepted Answer

Kennedy's Disease results from an abnormal expansion of a CAG trinucleotide repeat within the androgen receptor (AR) gene. This genetic anomaly produces a mutated AR protein with an abnormally long polyglutamine tract. The altered protein misfolds and accumulates within neuronal nuclei, particularly in motor neurons, disrupting normal cellular processes and leading to neuronal dysfunction and degeneration.

Question 5

What is the Application of Kennedy's Disease?

Accepted Answer

In clinical practice, individuals with Kennedy's Disease typically present with adult-onset progressive limb weakness, muscle fasciculations, and bulbar symptoms like dysarthria and dysphagia. Patients frequently exhibit endocrine features such as gynecomastia and testicular atrophy, demonstrating the androgen receptor's broad involvement. Management strategies focus on symptomatic relief, physical therapy, and nutritional support.

Question 6

What is the Metric of Kennedy's Disease?

Accepted Answer

Diagnosis of Kennedy's Disease is definitively established through genetic testing, identifying the characteristic CAG repeat expansion in the androgen receptor gene. Clinical assessment includes detailed neurological examinations. Electromyography (EMG) and nerve conduction studies (NCS) objectively measure motor neuron degeneration. Serum creatine kinase levels may also be elevated, indicating muscle damage.

Question 7

What is the Risk of Kennedy's Disease?

Accepted Answer

Patients with Kennedy's Disease face significant clinical risks as the condition progresses. Progressive muscle weakness can lead to impaired ambulation and increased fall risk. Bulbar involvement presents a substantial risk of dysphagia, potentially causing aspiration pneumonia. Respiratory muscle weakness may also develop, possibly necessitating ventilatory support. Genetic counseling is advised due to the X-linked inheritance pattern.

Kennedy’s Disease

Meaning

Context

Significance

Mechanism

Application

Metric

Risk

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