Familial infantile myasthenia (Q92758): Difference between revisions

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Latest revision as of 07:53, 16 August 2026

Isolated Prolyl endopeptidase-like (PREPL) deficiency causing congenital myasthenic syndromes with pre- and postsynaptic features and growth hormone deficiency was reported in a singleton case. Clinical features include onset at birth, hypotonia, feeding difficulties. On examination eyelid ptosis, tented upper lip, proximal muscle weakness, variable during day, cholinesterase-inhibitor responsive. No decrement on repetitive nerve stimulation.

Language	Label	Description	Also known as
default for all languages	ID_1087841084
English	Familial infantile myasthenia	Isolated Prolyl endopeptidase-like (PREPL) deficiency causing congenital myasthenic syndromes with pre- and postsynaptic features and growth hormone deficiency was reported in a singleton case. Clinical features include onset at birth, hypotonia, feeding difficulties. On examination eyelid ptosis, tented upper lip, proximal muscle weakness, variable during day, cholinesterase-inhibitor responsive. No decrement on repetitive nerve stimulation.