Providing care for adults with muscular dystrophy

September 21, 2017

September is the awareness month for Muscular Dystrophy – a group of genetic diseases that cause progressive weakness and loss of muscle mass. People often associate muscular dystrophy with a childhood disease; and while Duchenne muscular dystrophy is one of the most prevalent forms, there are in fact over 150 different types of muscular dystrophies that affect both children and adults. 

In addition to a paediatric clinic that treats children affected by muscle disorders, London Health Sciences Centre (LHSC) offers a neuromuscular clinic that includes following adults affected by various types of muscular dystrophy.

Dr. Shannon Venance, neurologist at LHSC, along with Dr. Anita Florendo-Cumbermack and nurse practitioner, Wilma Koopman, lead the adult care team for muscular dystrophy within the neuromuscular clinic. While the clinic follows about 600-700 patients with inherited myopathies ranging in age from the late teens to early 80s, patients generally fall into two peaks.

“We will typically see new patients enter our care either as young adults in their late teens and early 20s that are either transitioning from paediatric care or have the initial onset of symptoms, or those in their 40s-60s with a later onset,” says Venance. “The age at which symptoms begin to present is one marker that helps us to narrow the field of which type of muscular dystrophy someone might have.”

LHSC’s neuromuscular clinic works closely with our medical genetics program to help determine a diagnosis for patients and will then put a management plan into place. Treatment varies depending on the type of muscular dystrophy and to date is largely supportive. While there is no cure as yet, medications, assistive devices and therapy can help manage symptoms and improve function for those living with a chronic disease such as muscular dystrophy.

In addition to diagnosis and management, the clinic provides important support for patients. 

“There are so many great community-based resources that are available through places like Muscular Dystrophy Canada, our local Participation Houses and the Canadian Neuromuscular Disease Registry,” says Venance. “By connecting our patients to these resources they are able to access a range of opportunities and supports, such as having appropriate supportive care at home, or participating in clinical research trials.” 

As well, the team works hard to ensure patients have a seamless experience when they come to the clinic. Often patients will need to attend more than the neuromuscular clinic to address medical issues that are exacerbated by muscular dystrophy, such as breathing, swallowing, and/or challenges with mobility. The team works cross-functionally with staff and physicians in these other areas to align appointments so that patients are able to meet with all of their health-care providers in a single trip to the hospital.

Venance adds, “Despite not having disease modifying or curative treatments, patients and families still find value coming to the clinic and I think that speaks volumes about the significance of the supportive care that is provided. For me, that value goes both ways. I think I’ve learned the most about muscular dystrophies from my patients – they bring a lived experience that you can’t replicate through textbooks and research papers.”

The hope for disease modifying or curative treatments remains, particularly as our understanding of medical genetics and epigenetics continues to expand.

“Knowledge in the field of medical genetics and epigenetics has grown exponentially over the last decade,” says Venance. “We now have an enzyme replacement therapy that is slowing down the progression of one specific myopathy that we didn’t have 10 years ago, so there is great hope that in the next decade we’ll come up with treatments that may not necessarily cure, but could greatly slow the advancement of other neuromuscular diseases as well.”