Mystery Monday: Have YOU heard of Congenital Muscular Dystrophy? 

This week, Mystery Monday focussed on Congenital Muscular Dystrophy with thanks to Cure CMD for the fantastic resources.  

Congenital Muscular Dystrophy (CMD) is a rare and debilitating genetic disorder that affects muscle development from birth. This condition encompasses a group of various subtypes, each with its own unique genetic mutations and clinical presentations. CMD typically manifests in early infancy or childhood and is characterized by progressive muscle weakness, poor muscle tone, and delayed motor milestones. Unlike some other forms of muscular dystrophy, CMD primarily impacts voluntary muscles, making activities like walking and moving extremely challenging for affected individuals.

One of the hallmark features of CMD is its extreme heterogeneity. There are multiple subtypes of CMD, each caused by mutations in different genes. Some subtypes, like laminin alpha-2 deficiency (MDC1A), are exceptionally rare and result in severe muscle weakness, joint contractures, and respiratory difficulties. Other subtypes may have less severe symptoms and a more varied disease progression. Diagnosing CMD can be complex due to its diversity, requiring genetic testing and a thorough clinical evaluation by a specialized medical team.

Treatment for CMD is primarily focused on managing symptoms and improving the individual’s quality of life. This may include physical therapy, orthopedic interventions, respiratory support, and assistive devices to enhance mobility. While there is currently no cure for CMD, ongoing research into gene therapy and other innovative treatments holds promise for the future, offering hope for improved outcomes and potentially even a way to halt or reverse the progression of this rare condition.

Where can I find out more about CMD? 

For more information and up to date research, head on over curecmd.org and if you missed this week’s Mystery Monday feature, be sure to check out our Instagram highlights here:  
Cure CMD also hosts a four-day Scientific & Family Conference attended by more than 500 CMD stakeholders. It’s a chance for both clinicians & families to interact with one another, sharing their diagnostic journey & expertise. “The Tenacity of Hope” is a documentary film by Cure CMD, in partnership with Living in the Light of Rare Diseases, to showcase members of the congenital muscular dystrophy community and their diverse journeys and perspectives. The full film is available now for on-demand viewing: https://youtu.be/Iliwi8JVaYo.