RESUMEN
We report the case of a 37-year-old man with clinical and electrophysiological features of hereditary slow-channel syndrome (SCS) and antibodies against acetylcholine receptors (AChR-Abs). He presented with weakness of shoulder and hand muscles. A supramaximal single stimulus to the motor nerves disclosed a double compound muscle action potential (CMAP). Repetitive stimulation of ulnar, suprascapular, and median nerves showed a CMAP decrement greater than 10%. The patient responded to pyridostigmine. This report confirms the importance of AChR-Ab titers in suspected cases of hereditary SCS because patients with positive AChR-Abs may have a better response to available treatments.
Asunto(s)
Músculos/fisiopatología , Síndromes Miasténicos Congénitos/fisiopatología , Adulto , Humanos , Masculino , Conducción Nerviosa/fisiologíaRESUMEN
We report three siblings of a family with hereditary motor and sensory polyneuropathy (HMSN) and buphthalmos. Electrophysiological studies showed a demyelinating neuropathy and pathological findings showed severe loss of myelinated fibers (MF), thin myelin sheaths and myelin infoldings in a few remaining MF. The presumed mode of inheritance is autosomal recessive. This family probably represents an unique form of CMT4 that may be related to one of the congenital glaucoma genic locus, particularly GLC3A and GLC3B, described in Turkish families.
Asunto(s)
Glaucoma/congénito , Adulto , Femenino , Glaucoma/diagnóstico , Neuropatía Hereditaria Motora y Sensorial/genética , Humanos , Masculino , LinajeRESUMEN
We report two females, and one male with Isaacs' syndrome. The patients presented with clinical myokymia activity, muscle cramps, delayed relaxation, and muscle hypertrophy and increased sweating. Needle electromyography in several muscles showed generalized continuous motor unit discharges, myokymic discharges, and normal nerve conduction studies. Muscle biopsy showed type two fiber atrophy. Treatment with carbamazepine was effective in two cases and prednisone in one.
