A Guide for

Patients and
Families

What is...

Limb-Girdle Muscular
Dystrophy
Limb-girdle muscular dystrophies Limb-girdle muscular dystrophy
(LGMDs) are a group of rare type 2 (LGMD2) includes forms of the
progressive genetic disorders that are disorder that have an inheritance pattern
characterized by wasting (atrophy) and called autosomal recessive, in which
weakness of the voluntary muscles two flawed copies of the causative
of the hip and shoulder areas. gene — one from each parent — are
required for the disease to occur.
The various forms of LGMD are caused
by mutations in many different genes. The age of onset, severity, and progression
These genes provide instructions for of symptoms of LGMD subtypes may
making proteins that are involved in vary greatly from case to case, even
muscle maintenance and repair. among individuals in the same family.
Some individuals may have a mild, slowly
It is difficult to determine the prevalence progressive form of the disorder; others
of limb-girdle muscular dystrophy may have a rapidly progressive form of
because its features vary and overlap the disorder that causes severe disability.
with those of other muscle disorders.
Prevalence estimates range from 1 in There are no cures for any of the LGMDs,
14,500 to 1 in 123,000 individuals. but medications and therapy can help
manage some symptoms and potentially
Muscle weakness and atrophy in slow the course of the disease.
LGMD are progressive and may spread
to affect other muscles of the body.

LGMD subtypes are classified based on

inheritance pattern and genetic cause.

Limb-girdle muscular dystrophy type

1 (LGMD1) includes forms of the disorder
that have an inheritance pattern called
autosomal dominant, meaning a flawed
gene from one parent is sufficient to
cause the disease.
What are the signs and symptoms of LGMD?
The unifying feature of the LGMDs is weakness and atrophy of the limb-girdle muscles. Each of the different
LGMD subtypes is further characterized by additional symptoms with varying age of onset and severity.

Nervous system Skeleton and muscle

• Developmental delay • Chewing/swallowing
problems
Cognition • Contractures
• Intellectual disability • Dysarthria
• Gait abnormalities
Gastrointestinal • Hypertrophy
• Dysphagia • Lordosis
• Muscle cramps
• Muscle wasting
Heart • Muscle weakness
• Arrhythmias • Myalgia
• Cardiomyopathy • Scoliosis
• Conduction abnormalities
Respiratory system
Systemic • Breathing difficulties
• Fatigue

What should I know about LGMD?

1 Disease progression in each 4 Weakness in the shoulder area may 7 LGMD, like other muscular
type of LGMD cannot be make reaching over the head, holding dystrophies, is primarily a disorder
predicted with certainty, the arms outstretched, or carrying of voluntary muscles. These are
although knowing the heavy objects difficult. It may become the muscles you use to move the
underlying genetic mutation increasingly hard to keep the arms limbs, neck, trunk, and other parts
can be helpful. Some forms above the head for such activities as of the body that are under
of the disorder progress to loss combing one’s hair or arranging things voluntary control.
of walking ability within a few on a high shelf. Some people find it
years and cause serious harder to type on a computer or other
disability, while others progress keyboard and may even have trouble 8 The involuntary muscles, except
very slowly over many years feeding themselves. for the heart (which is a special
and cause minimal disability. type of involuntary muscle), aren’t
affected in LGMD. Digestion,
5 The heart can be affected in LGMD, bowel and bladder functions, and
2 LGMD can begin in childhood, but this doesn’t occur as often as it sexual function, which are carried
adolescence, young adulthood, does in some other forms of muscular out by involuntary muscles,
or even later. Both genders are dystrophy. Heart problems can take remain normal.
affected equally. two forms — weakness of the heart
muscle (cardiomyopathy) and abnormal
transmission of signals that regulate 9 Pain isn’t a major symptom of
3 Individuals may first notice a the heartbeat (conduction abnormalities LGMD, although limited mobility
problem when they begin to or arrhythmias). The heart should be sometimes leads to muscle
walk with a “waddling” gait monitored for these complications. soreness and aching joints.
because of weakness of the
hip and leg muscles. They may
have trouble getting out of 6 Respiratory (breathing) function can 10 The brain, the intellect, and the
chairs, rising from a toilet decline over time, and this, too, should senses are unaffected in most
seat or climbing stairs. be monitored regularly. subtypes of LGMD.
How is LGMD treated?

Treatment is aimed at the

specific symptoms present Occupational therapy
in each individual. can help individuals
focus on specific activ-
Physical therapy may ities and functions,
help strengthen large particularly the
muscle groups, allow use of the hands,
greater motion in the joints specific to a person’s
and maintain mobility. job, recreation,
or daily living.
A pacemaker can be
used to stimulate a normal
heartbeat in individuals who
experience arrhythmia.

Supportive aids such as

railings, braces, walkers,
or wheelchairs may help Assisted ventilation
prevent falls, alleviate fatigue, can help those with
and preserve mobility. breathing problems.

Speech therapy can help

individuals who experience
slurred speech.

Please talk to your medical

provider to obtain more
information on
these treatments.
 MDA Glossary
Cardiac arrhythmia Limb girdle
Abnormal heartbeat The shoulder girdle is the bony structure
that surrounds the shoulder area, and
Cardiomyopathy the pelvic girdle is the bony structure
A condition in which the heart muscle surrounding the hips; collectively
is weakened, making it harder for the these are called the limb girdles
heart to pump blood to the body
Muscular dystrophy
Conduction defect A term that refers to a number of
Irregular electrical control diseases that cause progressive loss
of the heartbeat of muscle mass, resulting in weakness
and, sometimes, loss of mobility
Contracture
A shortening of muscles or tendons Mutation
around joints that can limit mobility A flaw in the DNA code

Dysphagia Myalgia
Difficulty swallowing Muscle pain

Dysarthria
Slurred speech

Hypertrophy
Overgrowth of muscle

To learn more about LGMD, visit mda.org or contact the MDA National
Resource Center at 833-ASK-MDA1 (275-6321).

Designated a Top-Rated Charity by the American Institute

of Philanthropy, MDA is the first nonprofit to receive a
Lifetime Achievement Award from the American Medical
Association for “significant and lasting contributions to the mda.org • 1-833-ASK-MDA1
health and welfare of humanity.” facebook.com/MDAOrg
@MDAorg

66-0019 March 2019