A congenital myasthenic disorder with paucity of secondary synaptic clefts: deficiency and altered distribution of acetylcholine receptors.

Abstract:

:Congenital myasthenia (CM) constitutes a heterogeneous group of disorders with different underlying defects. The authors investigated a case of CM, presenting with congenital contractures. Endplate studies in the first year of life showed a developmental disorder of postsynaptic membranes. Clinical follow-up demonstrated a beneficial effect of pyridostigmine, resulting in normal motor development. Results of a second biopsy at age 4 are reported in this paper. Microelectrode study showed small Mepp amplitudes, which returned to nearly normal in the presence of neostigmine. In the electronmicroscope the postsynaptic membranes showed a paucity of infoldings, as in the first biopsy. These membranes showed only scanty, patchy enhancement with two different methods for localization of AChR. The extrajunctional membranes showed evidence of local presence of AChR. Our results show a developmental disorder of postsynaptic membranes with a deficiency and altered distribution of AChRs.

journal_name

Ann N Y Acad Sci

authors

Smit LM,Veldman H,Jennekens FG,Molenaar PC,Oen BS

doi

10.1111/j.1749-6632.1987.tb51303.x

subject

Has Abstract

pub_date

1987-01-01 00:00:00

pages

346-56

eissn

0077-8923

issn

1749-6632

journal_volume

505

pub_type

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