Familial infantile myasthenia (Q92758): Difference between revisions
From determinar.ia.br - Determine suas informações
Changed an Item |
Changed an Item |
||||||||||||||
| Property / Collection date | |||||||||||||||
15 August 2026
| |||||||||||||||
| Property / Collection date: 15 August 2026 / rank | |||||||||||||||
Normal rank | |||||||||||||||
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. |
Statements
CID11:ID_1087841084
0 references
dki-india-ID_1087841084
0 references
Concluído
0 references
15 August 2026
0 references
