Efficacy of terbutaline in familial limb girdle myasthenia: Case report and review of literature
A 28-year-old lady, born to non-consanguineous parents presented with a history of weakness of all four limbs since the age of 6 years. Antenatal period was uneventful with fetal movements being reportedly normal. She had a normal cry at birth and attained developmental milestones normally. Symptoms were noted at 6 years of age. There were recurrent episodes of fall with buckling of knees as well as difficulty in climbing stairs. There was difficulty in lifting objects affecting both upper limbs since 10 years of age. There was history of intermittent mild nasal twang to speech and nasal regurgitation since the last 5 years. There was no drooping of eyelids or diplopia. There was history of fatigability, significant fluctuation of the symptoms with worsening toward the evening. There was episodic worsening of her limb weakness lasting for a few days. She also noted worsening during her menstrual cycles. There was similar illness in her younger sister as mentioned below.\nOn examination, she had short stature (height 140 cm). No other skeletal deformities were noted. There was no ptosis, extraocular movements and pupils were normal. Bifacial weakness was present and the lower cranial nerves were normal. Axial muscles were moderately weak. She had bilateral symmetric weakness in a limb girdle distribution. Deltoid was Medical Research Council (MRC) grade 3/5, biceps and triceps grade 4/5, mild distal hand grip weakness, iliopsoas grade 2/5, quadriceps, glutei, and hip adductors grade 3/5. Deep tendon reflexes were normal (++). Sensory examination was normal.