J Korean Geriatr Soc.  2007 Sep;11(3):174-179.

A Case Report of X-linked Recessive Bulbospinal Muscular Atrophy (Kennedy`s Syndrome)

• Kang SH
• Chun MH
• Lee JW
• Cha EH
• Yoo HW

Abstract

We had 58-year-old-man with chronic lower back pain, progressive whole extremities and facial muscle weakness, dysarthria and recurrent aspiration during swallowing, without any sensory disturbance. His two brothers had similar symptoms from their 6th decade. He had muscle atrophy on tongue, both hand lower leg muscles with some fasciculations. All tendon reflexes were absent without pathologic pyramidal reflex. Nerve conduction studies revealed low median, ulnar, and sural sensory nerve action potential amplitude. On EMG study, there were chronic denervation potentials on most of muscles of extremities. On DNA analysis, there were abnormal expansions of CAG repeats in the androgen receptor gene. We confirmed a X-linked recessive bulbospinal muscular atrophy (Kennedy's syndrome).

Keyword

Kennedy syndrome; CAG repeat protein; DNA mutational analysis; Lower back pain

MeSH Terms

Action Potentials
Bulbo-Spinal Atrophy, X-Linked
Deglutition
Denervation
DNA
DNA Mutational Analysis
Dysarthria
Extremities
Facial Muscles
Fasciculation
Hand
Humans
Leg
Low Back Pain
Muscles
Muscular Atrophy*
Neural Conduction
Receptors, Androgen
Reflex
Reflex, Stretch
Siblings
Tongue
DNA
Receptors, Androgen