LGMD manual

This guide aims to provide information and advice
about limb-girdle muscular dystrophy (LGMD) but is
not intended to replace the services of your
healthcare provider. If you are an adult who has
LGMD, you should consult your healthcare provider
about all matters relating to your health. Similarly, if
you are a parent or carer of someone with LGMD,
you should consult the person’s healthcare provider
about all matters relating to their health, involving
them in discussions too if age appropriate.
LIMB-GIRDLE
MUSCULAR
DYSTROPHY
Compiled by Gerda Brown

ABOUT THE MUSCULAR DYSTROPHY FOUNDATION OF SOUTH AFRICA
The Muscular Dystrophy Research Foundation of South Africa was founded in 1974 by Mr and Mrs
Newton Walker of Potchefstroom, who, at the time, had a son affected with Duchenne muscular
dystrophy. They felt there was a need to reach out to other parents and families in a similar situation.
Today the Muscular Dystrophy Foundation of South Africa (MDFSA) is a registered non-profit
organisation – Reg. No. 004-152 NPO – consisting of a national office and three branches, which operate
in the nine provinces of South Africa.
The mission of the Foundation is to support people affected by muscular dystrophy and to improve the
quality of life of its members. We assist affected persons and their families by providing access to
information regarding specific dystrophies, workshops, support groups, referral to genetic counselling
and health facilities, and providing assistive devices when funding is available.
National Office
12 Botes Street, Florida Park
Tel. 011 472-9703
Gauteng Branch (Gauteng, Free State, Mpumalanga, Limpopo and North West)
12 Botes Street, Florida Park
Tel. 011 472-9824
KZN Branch (KwaZulu-Natal and part of Eastern Cape)
Office 7, 24 Somtseu Road, Durban
Tel. 031 332-0211
Cape Town Branch (Western Cape, Northern Cape and part of Eastern Cape)
3 Wiener Street, Goodwood
Tel. 021 592-7306
The Executive Committee of the Muscular Dystrophy Foundation of South Africa thanks
Sarepta Therapeutics for their generous grant to make this manual possible.
i

Contents
1. Learn about LGMD ............................................................................................................................... 1
1.1. What is LGMD? ............................................................................................................................. 1
1.2. How common is LGMD? ............................................................................................................... 1
1.3. What are the symptoms of LGMD? .............................................................................................. 1
1.4. What causes LGMD? ..................................................................................................................... 2
1.5. Inheritance pattern ...................................................................................................................... 3
1.6. How is limb-girdle muscular dystrophy diagnosed? ..................................................................... 4
1.7. What is the progression of LGMD? ............................................................................................... 5
1.8. Subtypes of LGMD ........................................................................................................................ 5
2. Is there a treatment or cure? ............................................................................................................... 6
3. Medical management .......................................................................................................................... 7
3.1. Cardiac involvement ..................................................................................................................... 7
3.2. Respiratory symptoms .................................................................................................................. 7
3.3. Skeletal abnormalities .................................................................................................................. 7
3.4. Pain and inflammation ................................................................................................................. 7
3.5. Physiotherapy ............................................................................................................................... 8
3.6. Occupational therapy ................................................................................................................... 8
3.7. Orthosis (assistive devices) ........................................................................................................... 8
3.8. Gene therapy ................................................................................................................................ 9
3.9. Exercise ......................................................................................................................................... 9
3.10. Diet and nutrition ......................................................................................................................... 9
4. Assisted driving .................................................................................................................................. 10
5. Emergency care ................................................................................................................................. 10
6. References ......................................................................................................................................... 12
ii

1. Learn about LGMD
1.1. What is LGMD?
The Muscular Dystrophy Association 1 describes limb girdle muscular dystrophy (LGMD) as follows:
Limb-girdle muscular dystrophy (LGMD) is a diverse group of disorders with many subtypes
categorized by disease gene and inheritance. LGMD usually manifests in the proximal muscles
around the hips and shoulders. (The proximal muscles are those closest to the center of the
body; distal muscles are farther away from the center — for example, in the hands and feet).
The shoulder girdle is the bony structure that surrounds the shoulder area, and the pelvic girdle
is the bony structure surrounding the hips. Collectively, these are called the limb girdles, and it is
the observed weakness and atrophy (wasting) of the muscles connected to the limb girdles that
has given this group of disorders its name.
Medline Plus 2 explains further:
The severity, age of onset, and features of limb-girdle muscle dystrophy vary among the many
subtypes of this condition and may be inconsistent even within the same family. Signs and
symptoms may first appear at any age and generally worsen with time, although in some cases
they remain mild.
1.2. How common is LGMD?
The Muscular Dystrophy Association 1 notes: “Together, the group of disorders that constitute LGMD is
the fourth most common genetic cause of muscle weakness with an estimated prevalence in about 2 in
every 100,000 individuals.”
1.3. What are the symptoms of LGMD?
The main symptoms of LGMD are described as follows by the Muscular Dystrophy Association 1 :
The unifying features of the LGMDs are the weakness and atrophy of the limb-girdle muscles.
However, the age at which symptoms appear, and the speed and severity of disease
progression, can vary.
Individuals may first notice a problem when they begin to walk with a “waddling” gait because
of weakness of the hip and leg muscles. They may have trouble getting out of chairs, rising from
a toilet seat, or climbing stairs. As this weakness progresses, the person may require the use of
assistive mobility devices.
Weakness in the shoulder area may make reaching over the head, holding the arms
outstretched, or carrying heavy objects difficult. It may become increasingly hard to keep the
arms above the head for such activities as combing one’s hair or arranging things on a high shelf.
Some people find it harder to type on a computer or other keyboard and may even have trouble
feeding themselves.
The Muscular Dystrophy Association 1 adds that some of the LGMD subtypes are characterised by
additional symptoms. The subtypes are dealt with in section 1.8 of this manual.
1

Medline Plus 2 continues:
Figure1: LGMD manifestation 1
Muscle wasting may cause changes in posture or in the appearance of the shoulder, back, and
arm. In particular, weak shoulder muscles tend to make the shoulder blades (scapulae) "stick
out" from the back, a sign known as scapular winging. Affected individuals may also have an
abnormally curved lower back (lordosis) or a spine that curves to the side (scoliosis). Some
develop joint stiffness (contractures) that can restrict movement in their hips, knees, ankles, or
elbows. Overgrowth (hypertrophy) of the calf muscles occurs in some people with limb-girdle
muscular dystrophy.
Weakening of the heart muscle (cardiomyopathy) occurs in some forms of limb-girdle muscular
dystrophy. Some affected individuals experience mild to severe breathing problems related to
the weakness of muscles needed for breathing. In some cases, the breathing problems are
severe enough that affected individuals need to use a machine to help them breathe
(mechanical ventilation).
Intelligence is generally unaffected in limb-girdle muscular dystrophy; however, developmental
delay and intellectual disability have been reported in rare forms of the disorder.
1.4. What causes LGMD?
The Muscular Dystrophy Association 1 states the following about the causes of LGMD:
Genes are the codes, or recipes, that cells use to manufacture the various proteins needed by
the body. The genes associated with LGMD normally encode proteins that play vital roles in
muscle function, regulation, and repair. When one of these genes contains a mutation (a flaw,
such as missing or incorrect information), cells cannot produce the proteins needed for healthy
muscles.
There are two major groups of LGMDs. Called LGMD1 and LGMD2, these two groups are
classified by the respective inheritance patterns: autosomal dominant and autosomal recessive.
If one copy of the abnormal gene is sufficient to cause the disease, it is said to be autosomal
dominant; if two copies are needed, then the inheritance pattern is autosomal recessive. In
some families, the inheritance pattern cannot be determined.
2

Dozens of different genes, when mutated, have been shown to cause specific LGMD1 and
LGMD2 subtypes. In these cases, the proteins associated with these genes are nonfunctional or
deficient, and muscles are unable to function normally. Gradually, the muscles become weak
enough that people experience the symptoms of LGMD.
In addition to the known LGMD1 and LGMD2 subtypes linked to specific genes, there are many
cases of LGMD for which the causative gene is not yet known (and people with these cases are
not identified as having a subtype-specific form of LGMD). Scientists are actively working to
understand the causes of these unidentified subtypes of LGMD, because the more we
understand about all the different causes of LGMD and the diverse ways that muscle can be
compromised, the better chance we have of finding effective therapies to intervene in the
pathological process.
1.5. Inheritance pattern
Limb-girdle muscular dystrophy can have different inheritance patterns. Medline Plus 2 states:
Most forms of this condition are inherited in an autosomal recessive pattern, which means both
copies of the gene in each cell have mutations. The parents of an individual with an autosomal
recessive condition each carry one copy of the mutated gene, but they typically do not show
signs and symptoms of the condition.
Figure 2: Autosomal recessive pattern 2
Several rare forms of limb-girdle muscular dystrophy are inherited in an autosomal dominant pattern,
which means one copy of the altered gene in each cell is sufficient to cause the disorder.
3

Figure 3: Autosomal dominant pattern 2
1.6. How is limb-girdle muscular dystrophy diagnosed?
Muscular Dystrophy UK 3 explains:
The first clue towards the diagnosis of LGMD is usually obtained when your doctor takes your
medical history and examines you. Your family history can help to identify the pattern of
inheritance and to distinguish between autosomal dominant and autosomal recessive forms. A
physical examination, particularly a neurological evaluation including a muscle strength
assessment, can help the doctor determine the pattern of the muscle involvement. Occasionally
this may suggest a particular form of muscular dystrophy but usually a number of different tests
will be needed to make the diagnosis. These may include a selection of blood tests, electrical
tests, radiological investigations and, most importantly, a muscle biopsy.
Blood tests can show raised creatine kinase (CK) levels which suggest there may be a problem in
the muscles. CK is a muscle enzyme, which is released into the bloodstream at high levels when
there is muscle fibre damage. In addition to elevated CK serum levels, some people often have
elevated transaminates levels. These enzymes are also referred to as liver enzymes and people
with muscular dystrophy can therefore, sometimes, be wrongly diagnosed as having liver
disease.
Electromyography (EMG) is a test that measures the muscle’s response to stimulation of its
nerve supply and the electrical activity in the muscle. EMG and radiological investigations (MRI
scan) can help to identify the pattern of the muscle involvement, which may suggest a particular
form of muscular dystrophy.
Each of the tests, on its own, can indicate that LGMD may be a likely diagnosis. It is, however,
usually by studying a muscle biopsy that we can be most clear about what type of LGMD
someone might have. This is because we are now able to look directly at the proteins which may
be reduced or absent in different types of LGMD. In most situations, the muscle biopsy gives the
best chance of reaching a precise diagnosis. However, even today, the muscle biopsy alone is
sometimes not enough to distinguish between the exact types of LGMD and therefore genetic
tests may be needed to confirm or identify a precise diagnosis.
In approximately 25 percent of all LGMD patients, a precise diagnosis cannot be found in spite of
all the testing that is available.
4

1.7. What is the progression of LGMD?
In this regard, the Muscular Dystrophy Association 1 comments as follows:
At this time, progression in each type of LGMD cannot be predicted with certainty, although
knowing the underlying genetic mutation can be helpful. Some forms of the disorder progress to
loss of walking ability within a few years and cause serious disability, while others progress very
slowly over many years and cause minimal disability.
LGMD can begin in childhood, adolescence, young adulthood, or even later. Both genders are
affected equally.
When LGMD begins in childhood, some physicians say, the progression is usually faster and the
disease more disabling. When the disorder begins in adolescence or adulthood, they say, it is
generally not as severe and progresses more slowly. The course is usually one of slowly
progressive, mostly symmetric weakness, with the exception of a few types with rapid
progression or asymmetric weakness.
1.8. Subtypes of LGMD
According to the Muscular Dystrophy Association 1 LGMD can be divided into subtypes.
Type 1 LGMDs are dominantly inherited, requiring only one mutation for symptoms to result.
Type 2 LGMDs are recessively inherited, requiring two mutations, one from each parent for
symptoms to appear. Sometimes, LGMDs are referred to by their names, not their numbers, and
some types have not been assigned numbers. The discovery of genetically distinct subtypes has
redefined the classification of LGMD and has led to nomenclature designating the autosomal
dominant forms as LGMD1A, 1B, 1C, etc., and the autosomal recessive forms as LGMD2A, 2B, 2C,
etc.”
Furthermore, Muscular Dystrophy UK 3 states: “The different types of LGMD may have different
features associated with them *…+. However, the common features to all people in this group will
be weakness of the big muscles of the legs and/or arms.”
The table below lists the LGMD subtypes and specifies the autosomal dominant and autosomal recessive
types. 4 Name Old name Name Old name
LGMD D1 DNAJB6-
related
LGMD D2 TNP03-
related
LGMD D3 HNRNPDLrelated
LGMD D4 calpain3-
related
LGMD D5 collagen6-
related
LGMD R1 calpain3-
related
AUTOSOMAL DOMINANT
LGMD1D
LGMD R12 anoctamin5-
related
LGMD1F
LGMD R13 Fukutinrelated
LGMD1G
LGMD R14 POMT2-
related
LGMD1I
LGMD R15 POMGnT1-
related
Bethlem
LGMD R16 α-
myopathy dominant dystroglycan-related
AUTOSOMAL RECESSIVE
LGMD2A
LGMD R17 plectinrelated
LGMD2L
LGMD2M
LGMD2N
LGMD2O
LGMD2P
LGMD2Q
5

Name Old name Name Old name
LGMD R2 dysferlinrelated
related
LGMD R18 TRAPPC11-
LGMD2B
LGMD2S
LGMD R3 α-
LGMD R19 GMPPBrelated
LGMD2D
sarcoglycan-related
LGMD2T
LGMD R4 β-
sarcoglycan-related
LGMD2E LGMD R20 ISPD-related LGMD2U
LGMD R5 γ-
LGMD R21 POGLUT1-
LGMD2C
sarcoglycan-related
related
LGMD2Z
LGMD R6 δ-
LGMD R22 collagen6- Bethlem myopathy
LGMD2F
sarcoglycan-related
related
recessive
LGMD R7 telethoninrelated
related
muscular dystrophy
LGMD R23 laminin α2- Laminin α2-related
LGMD2G
LGMD R8 TRIM 32-
LGMD R24 POMGNT2- POMGNT2-related
LGMD2H
related
related
muscular dystrophy
LGMD R9 FKRP-related LGMD2I LGMD R25 LGMD2X
LGMD R10 titin-related LGMD2J LGMD R26
LGMD R11 POMT1-
related
LGMD2K
LGMD R27
LGMD R(number
pending)
2. Is there a treatment or cure?
As explained by Muscular Dystrophy UK 3 :
To date there is no specific treatment or cure for the muscle weakness that arises in
LGMD. Promising research, however, has been developed over the last few years.
Additionally there are supportive interventions which can help with managing symptoms
and complications. *…+
Appropriate management of symptoms and complications is essential and may vary from
type to type. Therefore knowing exactly which type of LGMD someone has helps to ensure
that the affected person is receiving the best follow-up and care.
Regular exercise to maintain good mobility is important for all patients affected by
muscular dystrophy. There are no precise guidelines about the type or intensity of
activities however it is recommended that any exercise undertaken is done within your
limitations and ensuring you remain comfortable. Extreme tiredness, muscle pain and
cramps during or after activities can mean that you have pushed yourself too hard and
therefore those activities should be avoided. Swimming is a beneficial activity because it
promotes movement of all muscles without increased strain. Physiotherapy may also be
very important to keep you mobile and to keep your joints supple.
In addition, NHS Inform 5 states that affected individuals should “Try to eat a healthy balanced diet and
maintain a healthy weight. This will help to reduce stress on already weakened muscles”.
6

3. Medical management
In this regard Physiopedia 6 notes: “There is no specific management protocol for LGMD syndromes and
management is based on presentation of the case. An aggressive supportive care is essential.”
3.1. Cardiac involvement
Physiopedia 6 states: “Placement of a pacemaker can be a life-saving procedure. With known
involvement, the case should be referred to cardiologist or surgeon. Other methods of treatment include
anticoagulant drugs, implantable defibrillator, etc.”
3.2. Respiratory symptoms
Physiopedia 6 continues: “Early intervention to treat respiratory insufficiency with non-invasive
ventilation can help improve function and prolong the patient's life expectancy.”
The LGMD Awareness Foundation 7 provides the following guidelines with regard to respiratory health:
The diaphragm is the muscle that pumps air in and out of the lungs. A weakened diaphragm only
does that partially and does not properly flush out the carbon dioxide out of the lungs during the
night. This has several consequences like apnea or shallow breathing, both of which will lower
the level of oxygen and increase the level of carbon dioxide in the blood. An elevated level of
carbon dioxide in the blood is linked to headaches, confusion, and lethargy. An elevated level of
carbon dioxide may also induce increased cardiac output, an elevation in arterial blood pressure.
Thanks to advances in clinical care and research there are things that you can do to manage the
respiratory effects of LGMD.
There are preventative measures and interventions that can help you maintain your respiratory
health and treat respiratory complications. Prevention and appropriate treatment of respiratory
complications are critical in order to prevent long-term hospital admissions, loss of
independence or life-threatening conditions.
Know the signs of respiratory insufficiency: sleeping more often, constant fatigue, occasional
confusion, difficulty concentrating, muscle twitching that did not previously exist, constant or
periodic headaches, significant shortness of breath at rest, difficulty sleeping or lying down,
unconsciousness or difficulty walking.
For more information, please read the Guide to respiratory care for neuromuscular disorders by
Muscular Dystrophy Canada. 8 The publication can be accessed online.
3.3. Skeletal abnormalities
Physiopedia 6 states: “Abnormal posture due to weakness of muscles can lead to
scoliosis/lordosis/kyphosis in later stages [and] can be corrected via orthopedic procedures like spinal
decompression, spinal fusion, spinal correction.”
3.4. Pain and inflammation
Corticosteroids can be given to counter pain and inflammation and delay the progression of the disease. 6
3.5. Physiotherapy
In this regard Physiopedia 6 notes the following:
7

The goal of physiotherapy is to prevent contractures and maximize function for as long as
possible.
Low impact aerobic exercise with submaximal strength training is usually safe and beneficial
to overall health.
Gentle low impact aerobic exercise improves cardiac function and endurance (swimming and
stationary cycle or treadmill)
Exercise protocol can include simple exercises like sit to stand, side step, backward walk,
marching in place, step-ups, step-taps, step-overs, soccer kicks
Upper limb exercises – Straight sitting, scapular retraction, neck lateral flexion, neck
retraction, shoulder rolls, shoulder resistive exercise, wrist movements, gentle gripping
activities, range of motion exercises of upper limb, reaching different targets,
Trunk exercises – Assistive crunches, trunk rotations, lateral bending of trunk, picking up
objects from floor, log rolls
Stretching exercises for quadriceps, hamstrings, piriformis, lateral trunk stretch, hip adductors
and abductors, gastrocnemius, hip flexors, deltoids, Biceps Brachii , triceps brachii, hand
stretches for fingers.
Lower limb exercises – Abduction of legs, quadruped walking, walking, donkey kicks, straight
leg raise, knee walking, quadruped superman, low intensity squats, side walks, toe taps on
different points, crab walks, heel raises, toe raises
Co-ordination activities – Shuffling cards, opposition of thumbs, performing crafts, picking
beads, writing
Warning signs – Excessive muscle soreness, prolonged shortness of breath, severe muscle
cramping, heaviness in extremities and feeling weaker rather than stronger within 30 minutes
of exercise.
3.6. Occupational therapy
Physiopedia 6 states that occupational therapy “helps in ergonomic evaluation and modification of self
care activities” and provides for the following:
Home evaluation
Adaptive dressing eg. dressing stick, Sock aide
Reaching activities modification – Things can be placed at lower height or use of a reacher
device
Strengthening of large group muscles
Mobility exercises
Energy conservation techniques
3.7. Orthosis (assistive devices)
The gift of maintaining independent mobility with the aid of special equipment is of invaluable support
to disabled people and their caregivers. Assistive devices and technology aim to maximise functional
capabilities in order to minimise the impact of disability as far as possible to maintain a healthy and
independent lifestyle.
Assistive devices for ambulation are tools used to aid in walking. The most common types include
walkers, canes, and crutches. 9
Other examples of assistive devices and technologies include the following 6 :
Arm slings
8

Lumbar corset
Lumbosacral orthosis
Hip knee ankle foot orthosis (HKAFO)
Knee ankle foot orthosis (KAFO)
Spinal brace
Wheelchair – non-powered or powered
3.8. Gene therapy
Physiopedia 6 states: “Gene therapy and stem cell therapy can introduce genetic material in cells helping
them to function in a normal manner. Stem cell therapy shows promising results and with exercises, a
definite improvement can be seen.”
3.9. Exercise
The LGMD Awareness Foundation 7 notes as follows:
Clinical studies in some LGMDs showed that moderate exercise, contrary to extreme exercise or
no exercise, helps maintain muscle strength and therefore quality of life. This conclusion is in line
with the feedback from people with LGMD. The challenge has been to define what represents
moderate exercise for people with LGMD.
Some experts recommend swimming and water exercises as a good way to keep muscles as
toned as possible without causing undue stress on the muscles and joints. Some physical therapy
clinics offer special aquatic therapy. The buoyancy of the water helps protect against certain
kinds of muscle strain and injury. Before undertaking any exercise program, make sure you
contact your doctor. (And don’t swim alone.)
3.10. Diet and nutrition
Muscular Dystrophy News 10 explains that a balanced diet is important to the health of people with
muscular dystrophy. The following helpful guidelines are provided 10 :
Choosing the right diet
Getting sufficient nutrition can be a challenge for people with muscular dystrophy. Many have
difficulty chewing and swallowing, or feel fatigue at levels that reduce appetite and make eating
a chore. Limited caloric intake can break down muscles faster, possibly speeding disease
progression.
A registered dietitian should be part of patients’ care team. The dietitian can help in constructing
an appropriate meal plan so patients get the nutrition they need in ways easy to eat and
swallow. This might mean substituting a meal-replacement shake for solid foods, or turning to
softer foods. Many patients can also benefit from taking vitamin supplements, but this should be
in consultation with a healthcare professional. Dietitians can also recommend recipes and meal
preparation strategies.
A well-balanced diet that is high in protein, and rich in leaner meat like fish or poultry, is
important. Because many patients struggle with constipation due to weak stomach muscles and
limited mobility, many dietitians recommend a diet high in fiber as well.
Mealtime strategies
Several strategies can help make mealtimes easier for people with muscular dystrophy:
9

Do no rush a meal, allowing time to eat; rushing increases the risk of choking
Avoid dry foods with loose crumbs, like day-old bread, crackers, or chips
Taking small bites may make chewing and swallowing easier
Minimize distractions during mealtimes, like a radio or TV, to concentrate on the meal and
reduce the risk of choking
Sitting in an upright position can help with swallowing
Speech therapy
Speech therapists can work with patients to improve the strength and range of motion in
muscles that control chewing and swallowing. They also can help teach safer approaches to
swallowing so to lessen the risk of choking.
Medication
Excess saliva is common in patients with weakened tongue and throat muscles, but certain
medications can be used to lessen saliva production.
Tube feeding
In extreme cases, doctors may recommend a feeding tube for nutritional support. This is a tube
surgically connected directly to the stomach, bypassing the mouth and esophagus to ensure that
patients are getting sufficient nutrients.
4. Assisted driving
Disability Info South Africa 11 states:
One of the biggest obstacles that many Persons with Mobility Impairments often encounter, is
getting their independence back and being able to drive a vehicle or be transported in a vehicle.
There are a variety of different types of equipment & adapted vehicles, which are available in
South Africa to assist you to be able to drive *…+.
5. Emergency care
The information below on emergency care is reprinted from the website of the Muscular Dystrophy
Foundation of South Africa 12 (with original acknowledgements to Muscular Dystrophy UK).
Cardiac care
Cardiomyopathy and/or dysrhythmias are common in LGMD.
Respiratory care
Symptoms of nocturnal hypoventilation may signal the development of significant
respiratory muscle weakness and the need for intervention. Noninvasive ventilation (NIV)
may be required. If supplemental oxygen is required during a respiratory crisis, this must be
carefully controlled and carbon dioxide levels monitored, especially in the context of chronic
respiratory failure.
Assisted coughing with chest physiotherapy and breath-stacking techniques with an AMBU
bag help to clear lower airways secretions. This can also be facilitated by a cough assist
device. These interventions should be performed only by trained and experienced persons.
Immunisations should be kept up-to-date, including the flu and pneumococcal vaccines.
10

Medication and anaesthetic precautions
It is essential that the anaesthetist is aware of the diagnosis of LGMD to allow appropriate
pre-operative assessment and post-operative monitoring.
LGMD patients may experience increased sensitivity to sedatives, inhaled anaesthetics and
neuromuscular blockade.
Local anaesthetics and nitrous oxide are safe (e.g. for minor dental procedures).
Fractures and falls
If the patient is ambulant before fracture, internal fixation is preferable to casting as it helps
to preserve muscle and speeds a return to walking.
It is advised to check vitamin D levels and bone mineral density on a regular basis, especially
following a fall or fracture.
Recommendations and precautions
Swallowing difficulties are rarely reported in LGMD patients, however if present, they
should be assessed by a speech and language therapist (SALT).
Liver enzymes (AST/ALT/alkaline phosphatase) may be mildly raised on blood tests in up to
50 percent of patients. The clinical setting dictates whether further investigation is
indicated.
Please contact your local MDFSA office for a pocket-size emergency card.
11

6. References
1. Muscular Dystrophy Association. (©2023). Limb-girdle muscular dystrophy (LGMD).
https://www.mda.org/disease/limb-girdle-muscular-dystrophy.
2. Medline Plus. (No date). Limb-girdle muscular dystrophy. National Library of Medicine (US). Last
updated 1 September 2019. https://medlineplus.gov/genetics/condition/limb-girdle-musculardystrophy/#:~:text=Limb%2Dgirdle%20muscular%20dystrophy%20is,%2C%20pelvic%20area%2C%2
0and%20thighs.
3. Muscular Dystrophy UK. (©2023). Limb girdle muscular dystrophies (LGMDs).
https://www.musculardystrophyuk.org/conditions/limb-girdle-muscular-dystrophies-lgmds.
4. Wikipedia. (No date). Limb-girdle muscular dystrophy. Last updated 22 February 2023.
https://en.wikipedia.org/wiki/Limb%E2%80%93girdle_muscular_dystrophy.
5. NHS Inform. (©2023). Limb girdle muscular dystrophies. Last updated 20 January 2023. Scottish
Government. https://www.nhsinform.scot/illnesses-and-conditions/brain-nerves-and-spinalcord/muscular-dystrophy/limb-girdle-muscular-dystrophy.
6. Physiopedia. (©2023). Limb girdle muscular dystrophy. https://www.physiopedia.com/Limb_Girdle_Muscular_Dystrophy.
7. LGMD Awareness Foundation. (©2023). LGMD facts. https://www.lgmd-info.org/what-islgmd/lgmd-facts/.
8. Muscular Dystrophy Canada. (2013). Guide to respiratory care for neuromuscular disorders.
https://muscle.ca/wp-content/uploads/2019/09/RC13guide-EN.pdf.
9. Osmosis. (©2023). Assistive devices for ambulation. Elsevier.
https://www.osmosis.org/learn/Assistive_devices_for_ambulation.
10. Muscular Dystrophy News. (©2013-2023). Diet and nutrition.
https://musculardystrophynews.com/diet-and-nutrition/.
11. Disability Info South Africa. (©2023). Vehicles, driving and equipment.
http://disabilityinfosa.co.za/mobility-impairments/assistive-devices-equipment/vehicle-drivingequipment/.
12. Muscular Dystrophy Foundation of South Africa. (No date). Limb girdle muscular dystrophy.
https://www.mdsa.org.za/Limb-Girdle.php.
12