Familial infantile myasthenia (Q92758): Difference between revisions
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A deficiência isolada de Prolyl símile a endopeptidase (PREPL) causando síndromes miastênicas congênitas com características pré e pós-sinápticas e deficiência de hormônio do crescimento foi relatada em um único caso. As características clínicas incluem início ao nascimento, hipotonia, dificuldades de alimentação. Ao exame, ptose palpebral, lábio superior em tenda, fraqueza muscular proximal, variável durante o dia, responsivo ao inibidor da colinesterase. Sem diminuição na estimulação nervosa repetitiva. | |||
| description / en | description / en | ||
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. | |||
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 |
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| 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. |
