| Autor: |
Amelia Suan-Lin Koe, Yee Yin Tan, Shrenik Vora |
| Jazyk: |
angličtina |
| Rok vydání: |
2024 |
| Předmět: |
|
| Zdroj: |
Pediatrics and Neonatology, Vol 65, Iss 6, Pp 527-531 (2024) |
| Druh dokumentu: |
article |
| ISSN: |
1875-9572 |
| DOI: |
10.1016/j.pedneo.2024.02.009 |
| Popis: |
X-linked myotubular myopathy (XLMTM) is a severe type of congenital skeletal muscle disorder usually presenting at birth requiring extensive resuscitation. While having phenotypic variability, its diagnosis carries a poor prognosis due to high rates of hospitalization and mortality by early infancy. Management of patients with XLMTM should therefore be guided by shared decision-making with parents, considering the severity and progression of the disease, quality of life, and demands on caregivers. We describe a family unit of two half-siblings presenting with the severe neonatal form of XLMTM, with varying prognosis and outcomes. Furthermore, a novel maternally-derived c.343-1G > A variant in intron-5 of the MTM1 gene was identified in this family. Hereby, we propose an algorithm for the management of XLMTM, outlining important considerations during the antenatal and postnatal follow-up period. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
|
