Understanding

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!”