Kennedy disease with difficulty in differential diagnosis: A case report

Area of Science:

• Neurology
• Genetics

Background:

• Kennedy disease (KD), also known as spinal bulbar muscular atrophy, presents with symptoms overlapping many neuromuscular diseases, complicating clinical diagnosis.
• Early and accurate diagnosis is crucial for effective management and patient prognosis.

Observation:

• A 43-year-old male presented with progressive proximal limb weakness, gynecomastia, erectile dysfunction, diminished reflexes, and tongue atrophy.
• Initial laboratory findings included elevated creatine kinase, impaired glucose tolerance, and abnormal lactic acid levels.

Findings:

• Genetic testing excluded SMN1 and mitochondrial gene mutations.
• Diagnosis was confirmed by identifying a trinucleotide CAG (glutamine)-repeat expansion in the androgen-receptor gene, characteristic of Kennedy disease.

Implications:

• This case highlights the importance of considering Kennedy disease in patients with progressive neuromuscular symptoms, even without a family history.
• Genetic analysis is essential for differentiating KD from other neuromuscular conditions like myasthenia gravis, mitochondrial myopathy, and amyotrophic lateral sclerosis.
• Symptomatic treatment led to a good prognosis for the patient.