A case of paramyotonia congenita in pregnancy
| Autor: | E K Brooks, Helen L Robinson, D Schweitzer |
|---|---|
| Rok vydání: | 2019 |
| Předmět: |
musculoskeletal diseases
congenital hereditary and neonatal diseases and abnormalities Pregnancy Pediatrics medicine.medical_specialty Weakness Flaccid paralysis business.industry Obstetrics and Gynecology Skeletal muscle medicine.disease Myotonia 03 medical and health sciences 0302 clinical medicine medicine.anatomical_structure Paramyotonia congenita 030225 pediatrics Cases Medicine Symptom onset medicine.symptom skin and connective tissue diseases business Myopathy 030217 neurology & neurosurgery |
| Zdroj: | Obstet Med |
| ISSN: | 1753-4968 1753-495X |
| DOI: | 10.1177/1753495x18816171 |
| Popis: | Paramyotonia congenita is a rare autosomal dominant non-dystrophic myopathy caused by mutations in the SNC4A gene, which encodes for the voltage-gated sodium channel in skeletal muscle. Symptom onset is typically during early childhood and is characterised by myotonia followed by flaccid paralysis or weakness, usually exacerbated by repeated muscle contractions or cold temperatures. Pregnancy has been reported to increase symptoms of myotonia; however, there is limited information in the literature regarding the possible effects of paramyotonia congenita on pregnancy and labour. We present a successful case of a 20-year-old primigravida with confirmed paramyotonia congenita and review the literature regarding paramyotonia congenita during pregnancy. |
| Databáze: | OpenAIRE |
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