" /> Familial infantile myasthenia - CISMeF





Preferred Label : Familial infantile myasthenia;

ICD-11 definition : 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.;

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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.

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08/05/2025


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