Pediatric Series


Mobility Issues to Expect from Limb-Girdle, Emery-Dreifuss & FSHD MD

muscular dystrophy

FacioScapuloHumeral (FSHD) MD

To work in seating & wheeled mobility is to work regularly with muscular dystrophy in its many, complex forms.

The Muscular Dystrophy Association identifies nine types of muscular dystrophy (MD); the National Institutes of Health count more than 30. They all have traits in common, namely genetically caused muscle wasting and weakness that progresses, though at different rates that can be based on the type of MD and, some specialists believe, when symptoms first present. That theory is that the earlier in life the person with MD shows symptoms, the more quickly the condition will progress and the more serious its impact is liable to be.

Pediatric seating & wheeled mobility professionals likely work most often with children — almost always boys — who have Duchenne or Becker MD. Both types impact skeletal muscles and, often, cardiac muscles with debilitating effects.

Because of their early impact on mobility, Duchenne and Becker MD receive much of the attention in the complex rehab technology industry. But there are many other forms of MD, most presenting during childhood or adolescence.

We’ll look at three more types of MD that commonly impact mobility, often as early as childhood.

Limb-Girdle MD

This form encompasses a group of conditions that mainly impact the hips and shoulders, with proximal muscles first impacted. Distal muscles are affected later in life, if they’re affected at all. “Girdle” refers to the group of muscles surrounding the bone: For example, the hip girdle refers to muscles around the hip.

  • Muscles of the limbs, neck and trunk experience weakness and atrophy.
  • Mobility, including strength to rise to a standing position and ambulating, can be impacted.
  • Cardiac muscles are affected in some types of Limb-Girdle MD, which is why some specialists recommend testing to pinpoint the specific type a client has.
  • Respiratory symptoms can also be present.
  • Can present in childhood (including in children under age 5), adolescence or early adulthood.
  • Some specialists believe that earlier presentation of symptoms generally leads to faster progression and more severe impact.
  • Affects both genders.
  • Early presentations of Limb-Girdle can include difficulty walking, climbing stairs, standing up or standing on toes.
  • More than two dozen subtypes of Limb-Girdle MD have been identified.

Emery-Dreifuss MD

This type of muscular dystrophy was named after Alan Emery and Fritz Dreifuss, who studied its presence in a Virginia family in the 1960s.

  • Marked by weakness and atrophy of shoulder, upper-arm and calf muscles.
  • Can also involve muscles in the face and spine.
  • Contractures of elbows, neck and heels commonly present early.
  • Conduction block, a type of cardiac problem, is common.
  • Typically presents by age 10.
  • Early observed symptoms include walking on the toes and difficulty bending the elbows. Lifting arms above the head can be difficult due to muscle weakness.
  • As Emery-Dreifuss progresses, clients can experience weakness in thigh muscles, which makes stair climbing difficult. Scoliosis can also occur. Clients with autosomal-dominant EDMD can lose the ability to ambulate.
  • Affects both genders.

FacioScapuloHumeral (FSHD) MD

Named for the progressive loss of muscle in the face, back and upper-arm muscles, FacioScapuloHumeral (FSHD) muscular dystrophy often presents asymmetrically, with only one arm or leg showing initial symptoms.

  • Hip girdle and legs are also affected in many clients.
  • Symptoms can be noticed and remain present for years before a formal diagnosis.
  • Early symptoms include being unable to fully close eyes while asleep, inability to whistle or sip through a straw, pronounced shoulder blades that can appear wing-like in shape, foot drop, curved spine (lordosis), and weaker abdominal muscles that can cause protrusion of the abdomen.
  • Symptoms can also include muscle strain and pain (on unaffected muscles called upon to compensate for weakness in other muscles) and chronic fatigue.
  • Usually presents in teenage years or earlier. Facial muscle weakness can start manifesting in childhood. An infantile-onset type of FSHD is generally more severe and can impact hearing and vision.
  • If contractures occur, they’re most likely to impact ankles.
  • Muscle inflammation and pain are common.
  • Affects both genders.

How CRT Technology Is Impacting MD

Recent advances in complex rehab technology (CRT) now offer more choices to ATPs and clinicians working with MD clients.

Among very new advances in power positioning: anterior tilt and seat elevation, particularly the type that enables users to drive their power chairs while elevated. Those positioning options can be helpful in a number of ways, including making transfers more efficient.

“I wish I had today’s anterior tilt years ago,” Brandon Edmondson, OTR, ATP, director of clinical sales and outcomes at Permobil Group, says about working with clients with Limb-Girdle MD. “I remember clients that would move around their home from bar stool to bar stool. But once they sat down on anything lower than that, they were unable to get back up. It’s hard to find beds and toilets that high, but the power chair can really help with an anterior tilt feature, especially since we can program it to function in any manner they need and even set the footplates on the ground.”

Edmondson points out that FSHD MD “has its own set of challenges, especially with seating & positioning as they relate to powered seating. They need the seat to move, but often need custom molding to receive any real back support, especially in the lumbar region, which means we need a recline that can be programmed to only move in smaller amounts. These clients who are weak all benefit from memory seating — automating their positions and assigning them to switches make them much more apt to change positions and therefore sit more comfortably.”

The MD Seating & Mobility Assessment

Given what is known about the muscle groups impacted by Limb-Girdle, Emery-Dreifuss and FSHD MD, what should clinicians and ATPs look for in the seating assessment?

Jay Doherty, OTR, ATP/SMS, senior clinical education manager, East Coast, Quantum Rehab, says with any type of MD, “The key is to look for any weakness that is going to cause any problem with their mobility. This could include contractures that would limit the individual’s ability to adequately and efficiently ambulate, propel a manual wheelchair or even utilize an input device to control a power wheelchair. This can be any limitation that can affect the individual’s ability to properly utilize a mobility device, but also any lack of movement or decreased strength that can reduce the individual’s ability to remain independent throughout the day, every day. Every person may present differently, so assessment is very individual per person.”

Lauren Rosen, PT, MPT, MSMS, ATP/SMS, Motion Analysis Center program coordinator at St. Joseph’s Children’s Hospital in Tampa, Fla., says, “We look for many of the same things in these kids as with kids with Duchenne. Many of them develop poor gait patterns, where they are hanging on the Y ligaments in their hips and hyperextending their knees. We’re also looking at endurance and balance at that point. Can the child go to school all day and function, or are they coming home exhausted? Are they falling a lot and at risk of injuring themselves? The difference for these kids is that it is usually happening when they are older than the kids with Duchenne MD.”

Mobility Decisions

What about mobility base choices for kids diagnosed with Limb-Girdle, Emery-Dreifuss or FSHD MD? Is power mobility the first thought that comes to mind? Is an ultralightweight chair ever a possibility?

“With many of these kids,” Rosen says, “they and their families are not ready to accept a wheelchair until they really are having a lot of problems. By then, in many cases, we need to go straight to power.”

For a client with any form of MD, Doherty says, “I have found that often early on in these individuals’ lives, they may use an ultralightweight manual wheelchair because they are able to propel the wheelchair. What we have to examine is how long is that ultralightweight manual wheelchair going to be an effective means of mobility? We also must examine are there long-term effects that can develop and cause the individual problems later in life? The overall picture for the individual must be examined to be sure that we are addressing all aspects of a person’s life and their mobility needs in all environments.”

Rosen says that when families do understand the benefits a mobility system can offer “and prioritize mobility and independence over the stigma of using a wheelchair — in those cases, we are able to do ultralightweight wheelchairs. Again, for many families the decision is made by how long they wait to consider mobility. If the child is significantly weak in their upper and lower extremities, then we need to go power. If they have good, strong upper extremities, then manual chairs are considered.”

And since MD is progressive, Doherty says he considers not just a child’s current strength, but how propelling an ultralightweight manual chair could impact mobility in upcoming years.

“Power mobility is often a very good option, and we may go this route with individuals earlier on because we understand the long-term implications of overusing extremities that are losing strength now,” he says. “The long-term effects of overuse of joints and muscles can have significant impact later in the individual’s life.

“I look at where the person is now, what has been the progression of their condition up to now, and will power mobility provide greater outcomes and a high level of independence throughout the entire day? In addition, how old are they now, and how might their mobility needs change according to where they go to school or where they work and live? All aspects of the person life must be considered.”

A Scooter Solution?

For clients who are currently less impacted, would scooters be a possible mobility solution?

“I may place a child in a scooter if that device is the most appropriate piece of equipment for their particular type of muscular dystrophy,” Doherty says, “understanding that certain types of muscular dystrophy may progress slower than other types. If I know that the course of their condition is likely to progress faster than other types of muscular dystrophy, I will likely be conservative and push them more towards a device that can change with them, such as a complex rehab power wheelchair with more basic seating now. Then as their muscular dystrophy progresses, we can change the system and continue to meet the individual’s needs with components such as power positioning when it is needed.”

Rosen acknowledges that scooters can be more acceptable to families than wheelchairs, but says, “In most cases we prefer not to start with mobility scooters. Usually, the families want one of those and not any type of power wheelchair. The problem with those are that there are no true pediatric scooters, and most scooters that insurance funds are not great for going over grass and uneven surfaces.

“Also, because many of the muscular dystrophies affect the shoulders first, I see these people kind of swinging their arms and using momentum and gravity to get their hands onto the tiller. If their hands fall off, they have to then expend more energy bringing them back up again.”

More promising are those powered positioning options, including anterior tilt and seat elevation, that can make the most of the MD client’s capabilities.

“Often we may find that seat elevation and anterior tilt are most helpful for this population,” Doherty says. “These devices allow the individual to stand with less effort, and less effort means being able to perform more transfers in a safer manner as the day progresses. So yes, alternative power seating such as seat elevation and anterior tilt can have a positive significant impact on the safety and effectiveness of an individual’s independent stand-pivot transfers.”

“Whenever possible,” Rosen says, “we do try to get seat elevators for clients who can stand/pivot transfer or who have upper-extremity strength to do lateral scoot transfers. The availability of anterior tilt has not been widespread, so we are just starting to use that with individuals.”

Rosen acknowledges that reimbursement can be an issue: “The problem with both features is that many payor sources do not cover them, and they are not inexpensive. But in cases where there isn’t funding, we do still show them the options, and my suppliers give them pricing. I feel like for transfers and for access, a seat elevator is imperative for many people. It makes me sad to see people who need them and cannot afford them. We also don’t use standing power chairs as much as I would like. Now that standing can be done as a ‘feature’ on some chairs, it is opening things up better to self pay when families want the option.”

Though the cost of an upgrade intimidates many families, Rosen says, “When they want it, unless their policy specifically prohibits it, I’ll try for anything and fight for my clients!”

Editor’s Note: Sources of muscular dystrophy information include FSH Society, Muscular Dystrophy Association and the National Organization for Rare Disorders.

This article originally appeared in the October 2016 issue of Mobility Management.

Seating Benefits Podcast with Ride Designs