2 PATIENTS WITH DISTAL MUSCULAR-DYSTROPHY AND AUTONOMIC NERVE DYSFUNCTION

Two female patients with distal muscular dystrophy (Miyoshi) are repor ted. Neurological examination revealed marked weakness and a low skin temperature of both lower legs, especially over the gastrocnemius musc le. Biopsy specimens of the anterior tibial muscle exhibited myopathol ogical features compatible with a dystrophic change and showed positiv e dystrophin reactions with all six antibodies used. Autonomic nerve s tudies in both patients, including laser Doppler flowmetry (LDF), comp onent analysis of the cardiographic R-R interval and a sympathetic ski n response (SSR) test, demonstrated marked abnormalities, such as sens itive vasoconstrictive responses, a suppressed peak of low frequency c omponents and an absence of SSR, respectively, compared with findings in healthy controls. Sympathetic nerve blocking by means of epidural a nesthesia produced clinical improvement and a marked decrease in the s erum CK level in one patient. Although the etiology of autonomic nerve disturbances in these cases remains to be elucidated, a positive immu noreactivity of nerve growth factor receptor (NGFR) implies the possib ility of some unknown sympathetic neurovascular disorder involving mus cle degeneration.