Two patients with distal muscular dystrophy and autonomic nerve dysfunction.
Two female patients with distal muscular dystrophy (Miyoshi) are reported. Neurological examination revealed marked weakness and a low skin temperature of both lower legs, especially over the gastrocnemius muscle. Biopsy specimens of the anterior tibial muscle exhibited myopathological features compatible with a dystrophic change and showed positive dystrophin reactions with all six antibodies used. Autonomic nerve studies in both patients, including laser Doppler flowmetry (LDF), component analysis of the cardiographic R-R interval and a sympathetic skin response (SSR) test, demonstrated marked abnormalities, such as sensitive vasoconstrictive responses, a suppressed peak of low frequency components and an absence of SSR, respectively, compared with findings in healthy controls. Sympathetic nerve blocking by means of epidural anesthesia produced clinical improvement and a marked decrease in the serum CK level in one patient. Although the etiology of autonomic nerve disturbances in these cases remains to be elucidated, a positive immunoreactivity of nerve growth factor receptor (NGFR) implies the possibility of some unknown sympathetic neurovascular disorder involving muscle degeneration.
Tomoda
A
A
Department of Child Development, Kumamoto University Medical School, Japan.
Zhao
J E
JE
Ohtani
Y
Y
Miike
T
T
Uchino
M
M
Higuchi
I
I
D000293:Adolescent; D000767:Anesthesia, Epidural; D001340:Autonomic Nerve Block; D001342:Autonomic Nervous System Diseases / Q000150:complications* / Q000473:pathology / Q000628:therapy; D001831:Body Temperature / Q000502:physiology; D003402:Creatine Kinase / Q000097:blood; D016189:Dystrophin / Q000276:immunology; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D017078:Laser-Doppler Flowmetry; D009132:Muscles / Q000473:pathology; D009136:Muscular Dystrophies / Q000150:complications* / Q000473:pathology / Q000628:therapy; D017475:Receptors, Nerve Growth Factor / Q000276:immunology
D016189:Dystrophin; D017475:Receptors, Nerve Growth Factor; D003402:Creatine Kinase