MUSCLE disorders are commonly generalized and usually symmetrical. However, this is a report of a patient with a congenital hypertrophy of muscle and bone confined to one lower extremity. This child has developed impressive myotonia and later weakness confined to the same extremity and now, at age 15, shows no sign of involvement of the other limbs or muscular groups. The muscular abnormality has been proven to be myopathic in nature. There is no clinical nor electromyographic evidence of myopathy in other parts of the body. A search of the literature has not revealed any case similar to the patient to be presented.
Report of a Case
A 15-year-old French Canadian girl was admitted to The Montreal Children's Hospital for evaluation of hypertrophy of the right lower extremity (Fig 1).She was born after a normal pregnancy and delivery. At birth it was noted that the right lower limb
Celesia GG, Andermann F, Wiglesworth FW, Robb JP. Monomelic Myopathy: Congenital Hypertrophic Myotonic Myopathy Limited to One Extremity. Arch Neurol. 1967;17(1):69–77. doi:10.1001/archneur.1967.00470250073007
Coronavirus Resource Center
Customize your JAMA Network experience by selecting one or more topics from the list below.
Create a personal account or sign in to: