An autosomal-recessive congenital myasthenic syndrome with tubular aggregates in a Libyan family.

Case report


Sieb JP, Tolksdorf K, Dengler R, Jerusalem F.

Department of Neurology, University Hospital, Bonn, Germany.

Neuromuscul Disord. 1996 Mar;6(2):115-9.


We studied a Libyan family in which five out of seven siblings have had slowly progressive limb-girdle weakness accentuated by exercise since childhood. Ptosis or ophthalmoplegia were not observed. Pronounced decremental electromyographic responses on 3 Hz stimulation indicated the presence of a defect of neuromuscular transmission. Repeated testing for acetylcholine receptor antibodies was negative. Muscle biopsy revealed tubular aggregates in 34% of the type 2 muscle fibers. Our observation illustrates the wide clinical spectrum of congenital myasthenic syndromes.

Keywords: Endplate; neuromuscular transmission; acetylcholine receptor; slow-channel syndrome; fatiguability; pyridostigmine