When Breathing Becomes a Challenge: A Case of Congenital Myasthenia Gravis in an Indian Neonate With a DOK-7 Gene Mutation.
| Autor: | Mendpara V; Medicine and Surgery, Pediatrics, Government Medical College Surat, Surat, IND., Bethanabotla S; Internal Medicine, Osmania Medical College, Hyderabad, IND., Yadav M; Medicine and Surgery, Maharani Laxmi Bai Medical College, Jhansi, IND., Kanisetti V; Medicine and Surgery, Bhaskar Medical College, Hyderabad, IND., Singh G; Medicine, Government Medical College and Hospital, Amritsar, IND., Das A; Internal Medicine, Rajiv Gandhi Medical College, Thane, IND., Sahu S; Surgery, Jagadguru Jayadeva Murugarajendra (JJM) Medical College, Davanagere, IND., Patel H; Pediatrics and Child Health, Government Medical College and Hospital, Surat, IND. |
|---|---|
| Jazyk: | angličtina |
| Zdroj: | Cureus [Cureus] 2023 May 10; Vol. 15 (5), pp. e38842. Date of Electronic Publication: 2023 May 10 (Print Publication: 2023). |
| DOI: | 10.7759/cureus.38842 |
| Abstrakt: | A rare neuromuscular condition known as congenital myasthenia gravis (CMG) affects some people from birth or very soon after. It results in fatigue and muscle weakness because of genetic abnormalities that interfere with the neuromuscular junction's ability to function, where the nerves and muscles connect. Even among those who have the same genetic mutation, the severity of CMG symptoms might differ considerably. The most typical signs of CMG include eyelid drooping, breathing issues, muscle weakness and weariness, and difficulties swallowing. Clinical examinations, neurophysiologic tests, and genetic analyses are frequently combined to make the diagnosis of CMG. Although there is no known treatment for CMG, many patients may control their symptoms and lead relatively normal lives with the right care. A newborn with CMG due to a DOK-7 gene mutation is described in this article, along with its very early onset. The DOK-7 mutation is a rare variant in the Indian population that causes CMG and usually manifests as 'limb girdle' weakness. However, due to muscle weakness, the neonate in this case developed severe respiratory distress and later died despite rigorous life-saving measures. Competing Interests: The authors have declared that no competing interests exist. (Copyright © 2023, Mendpara et al.) |
| Databáze: | MEDLINE |
| Externí odkaz: |
|