The role of the physiotherapist in diagnosing pediatric neuromuscular diseases
/Recent breakthroughs in treating neuromuscular diseases mean that it may now be possible to slow disease progression and prevent loss of muscle function. In many cases, once muscle function is lost it cannot be recovered. This is why early diagnosis and treatment are crucial.
“Conversation with families usually start with questions that come down to this: ‘What’s wrong with my child?’ or ‘They don’t seem to be progressing like other children his age.’”
- Pediatric Physiotherapist in Minneapolis, MN
Unfortunately, for children with undiagnosed rare diseases and their families, getting a diagnosis and finding a plan for treatment are difficult steps in a process that can be long and arduous, with patients being referred to a seemingly endless succession of healthcare professionals. Because neuromuscular diseases affect movement, the physiotherapist is often one of the first referrals. Physiotherapists see the world in terms of muscle function, so they are uniquely qualified to recognize signs and symptoms of neuromuscular disorders. As such they can help to course-correct the diagnostic journey for patients. While they cannot actually make a diagnosis, they can facilitate a timely diagnosis when they communicate their assessments, especially observations of any red flags, to referring pediatricians, who can then make informed referrals to pediatric neurologists.
“A definitive diagnosis of a genetic neuromuscular disorder needs to come from a neurologist, but that’s almost never the first stop for patients because the family needs a referral.” - Hospital-based Pediatric physiotherapist in Boston, MA
Physical therapists, also known as “physiotherapists” and “physiatrists” in other parts of the world, are trained to assess movement and physical development starting from birth. Pediatric neurologists might respond to parents’ reports of muscle weakness, loss of coordination, and degeneration by looking at lab values and genome maps; assessments of strength and movement are not the usual areas of focus for these specialists.
In contrast, the way physiotherapists look at developmental problems is more closely aligned with what the parent sees. For example, if a toddler can’t roll over from his or her back to crawl, or if a 4-year-old has trouble getting up off the floor, it might be hard for a parent to show these difficulties to a primary care doctor or pediatrician at a medical appointment. However, a physiotherapist has the training to perform a variety of assessments to formally work-up their observations and narrow down a specific diagnosis. In some cases, they can recognize a physical hallmark of a particular neuromuscular disease, such as Gowers Sign, which is a hallmark of Duchenne muscular dystrophy. Their role is also therapeutic, so they have more time with patients to actually observe how a patient moves and functions. Their familiarity with patients combined with their professional training allows them to provide a bridge between the families of patients and neurologists. In many cases, the information they can provide is the link to a diagnosis.
Gowers sign is the characteristic pattern observed in patients with Duchenne muscular dystrophy wherein they 'climb up' their thighs with the aid of their hands to overcome the weakness of their pelvic and proximal lower limb muscles.
What a physiotherapist sees versus what a primary care physician sees
In the best-case scenario, a primary care doctor would identify the signs and symptoms of neuromuscular disease and refer directly to a neurologist for diagnosis, but these are rare diseases, and primary care doctors or pediatricians don’t always recognize their telltale signs. Primary care physicians are generalists with a broad view. With patients presenting with signs of a neuromuscular disorder, a primary care doctor might see that the child is not moving normally, or their physical coordination is delayed, and based on these observations, they refer to a physiotherapist. Physiotherapists, on the other hand, are trained to look at movement, strength, and muscle function and interpret what they see. This is why physiotherapists need to know the red-flag signs and symptoms of neuromuscular diseases so we can tell the referring doctor the patient needs to see a pediatric neurologist.
The physiotherapist’s course of care
In the first meeting with a physical therapist, children often show up with a vague diagnosis from the family’s pediatrician of global developmental delay. In some cases, patients can also show up without any diagnosis at all. Here, the role of the physiotherapist is to observe and assess that patient over a longer duration of time, provide adequate testing, and eventually provide an appropriate and more specific referral.
“As a physical therapist you start with what you can see, and you ask questions about what you can’t see. Questions like ‘What was the birth like?’ ‘What was their development like?’ ‘Did they look normal at first and then develop symptoms?’” - Private-Practice Pediatric physiotherapist in Los Angeles, CA
Sometimes physiotherapists have to ask sensitive questions without sounding judgmental, such as inquiring if the child had an opportunity to move enough in their home environment or if have they spent excessive time in a walker. Sometimes physiotherapists recognize the physical symptoms as being a part of a family of known degenerative disorders that can be managed but not cured. Thus, a physiotherapist can support the family as part of a multidisciplinary team.
When diagnosis is confirmed, this is when the focus turns to preserving muscle function and helping patients stay as active as possible for as long as possible. Physical therapists continue working with patients in-hospital and as part of primary care and individual practices. Like nurses, they tend to spend more time with patients and get to know them individually. They cannot diagnose or prescribe medications, but the information they gather and communicate to specialists in rare disease is invaluable.
Although a diagnosis of a neuromuscular disease is never welcome, but there are more options available now than ever before for slowing down the loss of muscle function caused by neuromuscular disorders. This is why it is more important than ever to diagnose and begin treatments as early as possible. Physiotherapists can provide vital insights to make this happen for patients and their families.
Testimonials in this article are excerpts pulled from interviews with physical therapists from around the US about their role in recognizing rare diseases, especially pediatric neuromuscular disorders, thereby helping families find their way to a diagnosis. Participating physiotherapists agreed to be interviewed anonymously to protect the privacy of their patients and their families.