In the past three weeks, I've been approached with a recurring question from concerned parents and caregivers spanning the globe, from the sun-drenched lands of Bangladesh and India to the snowy expanses of Edmonton in Canada - often hailed as the gateway to the North. The queries, draped in different linguistic robes but identical in essence, probe the potential link between birth complications and the development of muscular dystrophies. This widespread curiosity, intriguing in its geographic spread, seems to stem from a belief that challenges faced during birth, such as a newborn not crying immediately, might signal the onset of muscular dystrophies. However, this notion finds little backing in scientific literature. In this write-up, my objective is to dispel these doubts, offering trustworthy insights to clarify the connection between muscular dystrophies and birth complications. Muscular dystrophies, encompassing a spectrum of genetic disorders characterized by progressive muscle weakness, have long been scrutinized under the lens of medical research. Contrary to common misconceptions, most of these conditions do not have a direct link to birth-related complications. Instead, their genesis predominantly lies in genetic mutations, whether inherited or occurring spontaneously (de novo).
To start with, Duchenne Muscular Dystrophy (DMD) is one of the most common types of muscular dystrophies known and I have never come across evidence suggesting a connection with birth-related complications. Newborn screenings, particularly those measuring creatine kinase levels, have been instrumental in early detection but do not imply any association with birth difficulties. Peer-reviewed studies consistently show that DMD's initial symptoms typically appear between ages 2 to 5 years, well after the birth process.
The situation differs slightly with myotonic dystrophy. Research indicates that pregnancies in women with this condition can encounter complications due to the disease's impact on both the mother and the newborn. However, these issues arise more from the genetic disorder itself rather than acting as harbingers or indicators of the disease in the child.
Similarly, congenital muscular dystrophies, observable from birth and sometimes hinted at by symptoms like reduced fetal movements, owe their manifestation to genetic causes. Symptoms present at birth are not induced by the pregnancy or labor process but are inherent to the disorder’s genetic basis.
In cases of limb-girdle muscular dystrophies, affecting muscles primarily around the hips and shoulders, and facioscapulohumeral muscular dystrophy, impacting the face, shoulders, and upper arms, research has not established a direct correlation with birth complications. Symptoms of facioscapulohumeral muscular dystrophy often emerge only in adolescence or later, further disassociating them from birth-related incidents. Anecdotally, I personally am aware of two female patients with different types of limb-girdle muscular dystrophy who had multiple childbirths without complications, and their children were born healthy.
The onset and progression of muscular dystrophies are predominantly dictated by genetic factors rather than birth complications. Parents and caregivers must base their understanding on evidence-based information and seek guidance from healthcare professionals for accurate diagnoses and advice. As ongoing research continues to enhance our understanding of these disorders, we can provide more effective support and management for those affected by muscular dystrophies. By dispelling myths and disseminating accurate knowledge, we offer reassurance and informed care to families grappling with these complex genetic conditions.