ABSTRACT
The French physician Augustine Marie Morvan first used the term 'la choriotae fibrillare' to describe a syndrome characterized by peripheral nerve hyperexcitability, dysautonomia, insomnia and fluctuating delirium. There are no published reports of the condition from the Indian subcontinent. We report the first such case from the region. Our patient, a 24-year-old male, presented with easy fatigability and stiffness in both the calves for 18 months; continuous twitching of muscles of all four limbs and jaw for two months; hyperhydrosis, palpitations, urinary symptoms, burning dysesthesia in hands, insomnia and abnormal sleep behavior for about a month. Patient had bilateral hyper-reflexia with extensor plantar on the right and equivocal response on the left. Electromyography revealed continuous muscle fiber activity. Thyroid function test, electroencephalography, computerized tomography scan (head) and routine cerebrospinal fluid analysis were normal. The patient showed marked clinical and electrophysiological improvement on prednisolone along with symptomatic therapy over the next two months.
Subject(s)
Adult , Electromyography , Humans , India/epidemiology , Male , Muscle Fibers, Skeletal/pathology , Myokymia/diagnosis , Thyroid Gland/physiopathologyABSTRACT
The clinical and electrophysiologic profiles of two brothers suffering from Charcot-Marie-Tooth disease are presented. Both had widespread muscle twitching in the legs which showed electrophysiologic features of myokymia. Pedigree analysis suggested an x-linked recessive form of inheritance. This appears to be the first report of an Indian family with x-linked Charcot-Marie-Tooth disease.