Table of Contents

INTRODUCTION.....................................................................................................2
RISK FACTORS.......................................................................................................2
TYPES OF MYOPATHIES......................................................................................2
INHERITED MYOPATHIES................................................................................2
CONGENITAL MYOPATHIES........................................................................2
MITOCHONDRIAL MYOPATHIES................................................................2
METABOLIC MYOPATHIES...........................................................................3
MUSCULAR DYSTROPHIES..........................................................................3
ACQUIRED MYOPATHIES................................................................................4
AUTOIMMUNE/ INFLAMMATORY MYOPATHY.......................................4
TOXIC MYOPATHY.........................................................................................4
ENDOCRINE MYOPATHIES...........................................................................4
INFECTIOUS MYOPATHIES...........................................................................4
ELECTROLYTE IMBALANCE........................................................................5
CRITICAL ILLNESS MYOPATHY..................................................................5
CLINICAL PRESENTATION..................................................................................5
ROLE OF PHYSIOTHERAPY.................................................................................5
REFERENCES..........................................................................................................6
MYOPATHIES (MYOPATHIC DISEASES)

INTRODUCTION
The myopathies are neuromuscular disorders with the primary symptom being muscle
weakness affecting the muscle fiber. Other symptoms are muscle cramps, stiffness, and
spasms. Myopathies can be inherited (such as muscular dystrophies) or acquired (such as
common muscle cramps).
Myopathy is a general term that refers to diseases that affect the muscles that connect to your
bones (skeletal muscles). People living with myopathy may have difficulty performing
activities of daily living like bathing, combing their hair, or standing up from a chair.

RISK FACTORS
A family history of myopathy increases the likelihood to inherit an abnormal gene that causes
muscle disease.
X chromosome can carry some myopathies affecting men more than women. However, some
forms of myopathies carried on other chromosomes affect all sexes equally.

History of an autoimmune, metabolic, or endocrine disorder.

Being exposed to certain medications or toxins cause toxic myopathy.
Hyperthyroidism might increase the incidence of the disease.
Inflammatory and endocrine myopathies are more common than the other types and are seen
mostly in women.

TYPES OF MYOPATHIES
They can be studied under two divisions, inherited and acquired types.
INHERITED MYOPATHIES
The ones that patients are born with come under this category often from inheriting an
abnormal gene mutation from a parent. Some of the conditions under this category are as
follows.

CONGENITAL MYOPATHIES
These start at birth or in early childhood, however, the symptoms do not appear until the teen
years or even later in adulthood. This type is slightly more varied than the other inherited
myopathies as the weakness typically affects all muscles (not just the proximal ones) and is
often not progressive.

MITOCHONDRIAL MYOPATHIES
This type is due to a defect in the powerhouses of the cells, the mitochondria. Along with
muscle weakness, other systemic symptoms involving the heart, brain, and gastrointestinal
tract are seen. Diseases in this group can be due to gene mutations with or without a family
history.

METABOLIC MYOPATHIES
Defects in genes that code for enzymes needed for normal muscle function and movement
cause metabolic myopathies. They often show exercise intolerance, exertional muscle pains
in the shoulders and thighs, or non-traumatic rhabdomyolysis (the breakdown of muscle
tissue that leads to the release of muscle fiber contents into the blood). Weakness can be on
and off in this type.

MUSCULAR DYSTROPHIES
A group of genetically-inherited primary muscle diseases has a progressive unremitting
muscular weakness. Six major forms of this are noticed. Duchenne’s, Becker’s, myotonic,
facioscapulohumeral, limb-girdle, and oculopharyngeal types.
Each of these has a unique inheritance pattern, age of onset, clinical features, involvement of
other organ systems, and clinical course, check the table below.
In general, these dystrophies manifest in childhood or early adulthood. A family history of
neuromuscular disease is elicited in many cases.

Figure 1. Contrasting features of muscular dystrophies.

ACQUIRED MYOPATHIES
There are more than five etiological factors that might cause myopathies later on in
adulthood, these are the acquired ones.
AUTOIMMUNE/ INFLAMMATORY MYOPATHY
These are the diseases where the body attacks itself, ending in problems with muscle
function.

TOXIC MYOPATHY
Happens when a toxin or medication interferes with muscle structure or function.
TOXINS-
Alcohol and toluene (a vapor in spray paint and other substances that can be inhaled by
people who abuse substances).

MEDICATIONS-
Checkpoint inhibitor immunotherapy, corticosteroids, cholesterol-lowering drugs,
amiodarone, colchicine, chloroquine, antivirals, and protease inhibitors used in the treatment
of HIV infection, and Omeprazole are some of the medications that lead to myopathy.

ENDOCRINE MYOPATHIES
When hormones interfere with muscle functions, myopathies can arise.
THYROID-
Hypothyroidism is more common. However, hyperthyroidism can cause too.
PARATHYROID-
Hyperparathyroidism results in increased calcium levels can cause it.
ADRENAL-
Addison’s disease and Cushing's syndrome can cause it.
INFECTIOUS MYOPATHIES
Viral infections like HIV, influenza, and Epstein-Barr.
Bacterial pyomyositis.
Lyme disease.
Parasitic infections such as trichinosis, toxoplasmosis, and cysticercosis.
Fungal infections like Candida and Coccidiomycosis can all cause myopathies.
ELECTROLYTE IMBALANCE
Imbalance in electrolytes like Potassium (hypokalemia/ hyperkalemia), and Magnesium
(Hypermagnesemia) can interfere with muscle function.
CRITICAL ILLNESS MYOPATHY
It is a disease of the limbs and the respiratory muscles that develop while a patient is being
cared for in an ICU (intensive care unit) causing prolonged immobility. Sometimes the
medications that have been given during this care might trigger myopathies too.

CLINICAL PRESENTATION
Myopathies typically involve motor impairment without no sensory symptoms (the primary
symptom is muscle weakness from dysfunction of muscle fiber).
Presents as proximal muscle weakness, mainly in the pelvic girdle or the shoulder girdle
muscle groups.

The pelvic muscle group is more common and more severe.

Patients may complain of difficulty raising from a sitting position, climbing stairs or
difficulty brushing their hair, or practicing any above-head activities.

Other symptoms of myopathy can include muscle cramps, stiffness, and spasm.
Some other myopathies will present in different muscle groups like thighs, back muscles, or
fingers, and could be possibly associated with other symptoms like myalgia, rashes, fatigue,
or cramps.
Muscle disease could also present with dark urine as a sign of renal damage in the case of
rhabdomyolysis, particularly after vigorous exercises like running marathons.
Patients might experience difficulty performing daily basic activities such as bathing,
dressing, or combing hair, trouble getting out of a bed or chair, performing tasks reaching
over the head (changing a ceiling bulb, etc.), or even shortness of breath with exertion.

ROLE OF PHYSIOTHERAPY
Physiotherapy can help control symptoms and help the client maintain a good quality of life.
Some of the things that are used are as follows.
 Increasing muscle strength.
 Improving balance.
 Increasing flexibility.
 Reducing the risk of falls.
 Preventing the development of muscular and joint contractures.
 Providing equipment for mobility such as walking aids, orthoses, calipers, and
wheelchairs.
 Advising on moving and handling techniques and equipment.
 Referral to other appropriate medical health professionals.
 Anticipating and minimizing other secondary complications of myopathies.