A Case Report of X-linked Recessive Bulbospinal Muscular Atrophy (Kennedy`s Syndrome).
- Author:
Si Hyun KANG
1
;
Min Ho CHUN
;
Jung Whan LEE
;
Eun Hye CHA
;
Han Wook YOO
Author Information
1. Department of Physical Medicine & Rehabilitation, Asan Medical Center, University of Ulsan College of Medicine, Korea. mhchun@amc.seoul.kr
- Publication Type:Case Report
- Keywords:
Kennedy syndrome;
CAG repeat protein;
DNA mutational analysis;
Lower back pain
- MeSH:
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
- From:Journal of the Korean Geriatrics Society
2007;11(3):174-179
- CountryRepublic of Korea
- Language:Korean
-
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).
