In June 2020, a doctor phoned Danielle Campo-McLeod to tell her that the diagnosis she had carried all her life was wrong.

She had been told at the age of two that she had muscular dystrophy. By 2020 she was 35, a mother, and a Paralympic swimmer with three gold medals from the Sydney 2000 Games. The call revealed that she actually had congenital myasthenic syndrome, a different neuromuscular disorder, and in her case it could be treated with medication. Treatment began in early July. Before long, the fatigue and pain she had lived with since childhood were gone.

"The most amazing thing, from a physical standpoint, is I don't have any more fatigue or pain," she told CBC News. Then she explained why she had never questioned it. "It was just the way my body was. I just assumed. I thought your feet hurt every day, too."

Pain that someone believes is normal rarely makes it into a medical file. Muscular Dystrophy Canada has now launched a national registry designed to capture exactly that kind of information: what daily life with a neuromuscular disorder feels like, reported by the people living with it.

What is the NMD-RWx? The Neuromuscular Disease Real-World eXperience Registry (NMD-RWx) is a national, patient-powered registry run by Muscular Dystrophy Canada. It is open to anyone in Canada living with a neuromuscular disorder, and to their parents, caregivers and family members, who can all join online from home.

What does a medical chart miss?

A chart records a diagnosis, a test result and a treatment plan. It rarely records how far someone can walk before they need to sit down, or what a good day looks like compared with a bad one.

Campo-McLeod puts that gap in everyday terms. After she started the new treatment, her muscle strength improved by 18 per cent. "To you it's only 18 per cent," she told The Drive magazine, "but to me, it's being able to put my youngest child in the bathtub."

It is the only national, patient-powered registry in Canada that is open to people with any neuromuscular disorder. Its questions cover mobility, the demands of caregiving, and whether people can get the treatment, equipment and support they need.

Campo-McLeod is joining the registry. "It's not just about my diagnosis," she said. "It's about fatigue, mental health, navigating the system, and planning for the future. Knowing that my experience can help improve care and access for others gives me hope."

Could one of these conditions be affecting you?

We write a lot about strength in these pages, because muscle is so closely tied to how well a woman ages. Sometimes, though, weakness has nothing to do with how often you train.

There are hundreds of neuromuscular disorders, and many of them begin in adulthood rather than childhood. Here are three worth knowing about if you are a woman between 25 and 45.

Myotonic dystrophy usually begins between the ages of 10 and 30, according to the US Centers for Disease Control and Prevention. Its best-known sign is a grip that closes normally but is slow to let go. Many people with the condition also feel very sleepy during the day.

Myasthenia gravis most often affects women under 40 and men over 60, according to the US National Institute of Neurological Disorders and Stroke. It usually starts in the eyes, with a drooping eyelid or double vision.

Women who carry the gene for Duchenne or Becker muscular dystrophy usually have no muscle weakness, but their hearts can still be affected. In a German study that scanned the hearts of 36 carriers, 17 showed at least one abnormal finding. The study was small, and an abnormal scan does not always mean heart disease. Still, the finding is a good reason for carriers to be checked.

Does any of this sound familiar? Ask your doctor directly whether a neuromuscular cause has been ruled out, and if it hasn't, ask for a referral to a neuromuscular clinic.

Why does a national headcount matter?

Canada already has a registry run through specialist clinics. The Canadian Neuromuscular Disease Registry enrolled 4,306 patients between 2010 and 2019, and in that time it supported 125 research projects, 46 of them for commercial sponsors. People can only join that registry through one of its 36 clinic sites, and only once a diagnosis has been confirmed.

The NMD-RWx takes a different approach. Anyone affected can join from home and decide how much to share.

Two ways to take part in the NMD-RWx
How you take part What you do What it tells researchers
Tier 1: National Headcount Create an account and give consent How many people are affected, which disorders they have, and where they live
Tier 2: Annual Health Questionnaire (optional) Answer questions about your health and daily life once a year How symptoms, quality of life and access to care change over time

Because the questionnaire uses standardized, validated measures, answers can be compared across different disorders and different provinces. That makes it possible to spot problems shared by many conditions. Registries that focus on a single disease often miss them.

"For too long, critical decisions about research, access, and care have been made without comprehensive Canadian data that reflects lived experience," said Stacey Lintern, CEO of Muscular Dystrophy Canada.

How do you join the NMD-RWx?

Registration is open now at muscle.ca/research/nmd-rwx. Creating an account takes only your name, an email address and a password.

If someone in your family lives with one of these disorders, send them the registration link tonight. And if those symptoms sound like your own, book the appointment.

This article is for general information and does not replace advice from your doctor.

Frequently asked questions

Can I register my child in the NMD-RWx?

Yes. A parent or guardian creates the account in their own name, and each child gets a separate record inside that account. Children below the age of majority, which is 18 or 19 depending on the province, cannot sign up on their own. Once they reach that age, they can take over their own record.

Is the NMD-RWx available in French?

Yes. The registration site at registry.muscle.ca runs in both English and French. You can switch languages at the top of the page before creating your account, so the consent information and questions are in the language you are most comfortable with.

Can I leave the registry after joining?

Yes. Participation is voluntary. Muscular Dystrophy Canada says participants choose how their data is shared and can withdraw at any time. It also says registry data is used only for approved research, advocacy and health system improvement, under ethical oversight.

How often should a Duchenne or Becker carrier have her heart checked?

Parent Project Muscular Dystrophy advises regular cardiology visits starting in the late teens or early adulthood. Screening includes an echocardiogram or cardiac MRI plus rhythm tests such as an ECG or Holter monitor. If the results are normal, it recommends repeating screening every three to five years.

Where in Canada is myotonic dystrophy most common?

The Saguenay–Lac-Saint-Jean region of Quebec has one of the highest rates recorded anywhere, about one in 500 people. The global figure is closer to one in 3,000, according to the StatPearls clinical reference published by the US National Library of Medicine.

Where can I get support after a neuromuscular diagnosis?

Muscular Dystrophy Canada offers customized supports for people and families affected by neuromuscular disorders, alongside its research funding and advocacy work. You can reach the organization at 1-800-567-2873 or through muscle.ca.

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