© Georg Thieme Verlag KG Stuttgart · New York
Prednisone-Responsive Limb-Girdle Syndrome: A Special Disorder?
16 May 2008 (online)
An eight-year-old boy had non-familial generalized muscle weakness, greater in the girdle and proximal limb muscles, sparing eye and face. It was insidiously progressive from age 14 months to age 20 months and then static, with major weakness. Two biopsies from very weak muscles, showed only type II muscle fiber atrophy. Muscle carnitine was normal. The EMG was "myopathic". Edrophonium test, antibodies to achR and systemic curare test were negative. There was a dramatic clinical improvement with prednisone, sustained now seven years later. Neither the pathogenesis nor cell mainly affected (neuron or muscle) is known. Not typical of a known disease, this unique patient demonstrates the potential therapeutic importance of steroid trial in patients with a severe chronic "limb-girdle syndrome" whose electrophysiology is non-specific and the muscle morphology shows changes "too minimal" to explain severe muscle weakness.
Limb-girdle syndrome - Steroid responsiveness