Myopathies

Introduction
A myopathy is a muscular disease in which the muscle
fibers do not function for any one of many reasons,
resulting in muscular weakness. "Myopathy" simply means
muscle disease. This meaning implies that the primary
defect is within the muscle, as opposed to the nerves
("neuropathies" or "neurogenic" disorders) or elsewhere
(e.g., the brain etc.). Muscle cramps, stiffness,
.and spasm can also be associated with myopathy
 Classification of Muscle Disease
 Dystrophies
– Duchenne’s Muscular Dystrophy(DMD)
– Becker’s Muscular Dystrophy(BMD)
– Myotonic Dystrophy

 Metabolic Myopathies
-Glycogen Storage Diseases
-Mitochondrial Myopathies
 Inflammatory Myopathies
– Infectious Myositis
– Non-Infectious Myositis (Auto-immune )
1-Polymyositis
2-Dermatomyositis
3-Inclusion body myositis
 Endocrine and Toxic Myopathies
-Thyrotoxic Myopathy
-Alcohol Myopathy
-Steroids Myopathy
-Hyperparathyroidism
-Adrenal insufficiency
-Hypokalemia

 Diseases of the Neuromuscular Junction

-Myasthenia Gravis
-Lambert-Eaton Syndrome
 DMD
It is present at birth but becomes evident at age of
3 to 5 yrs

Gower’s maneuver is positive

Joint contracture, scoliosis, decreased pulmonary

function

By 16-18 yrs patient dies of severe pulmonary

infection or aspiration pneumonia
 BMD

Similar to that of DMD

Less severe

Late onset

Survival rate is also higher

Myotonic Dystrophy
:Introduction
 The word myotonic is the adjective for the word
myotonia, an inability to relax muscles.

 Adult form: Autosomal dominant inheritance

 Weakness of the voluntary muscles usually
is the most noticeable symptom
 Myotonia makes it difficult to relax the
fingers after a firm hand grip
 Muscle pain also can occur in MMD
 Head, neck, face, intercostal and heart
and other involuntary muscles are also
affected.
Myotonic dystrophy

Weak grip of MMD

Normal grip
A child born with congenital myotonic dystrophy is
likely to have facial muscle weakness. The eye
muscles also may be affected
Eaton – Lambert
Syndrome
 Eaton – Lambert Syndrome
Definition: (“Autoimmune" disease).
 The attack occurs at the junction between
nerve and muscle and interferes with the
ability of nerve cells to send signals to
muscle cells
 Associated with some type of cancer in
about 60 percent of cases (mostly bronchial
small cell carcinoma)
 Onset - childhood to adulthood
Symptoms:
 Initially, leg weakness and difficulty walking; weakness of the
eye muscles and those involved in talking, chewing and
swallowing may occur later

 Dry mouth, constipation and bladder urgency sometimes occur

 Males are more commonly affected

 Repeated stimulation to the muscle lead to improved

neurotransmission.
Eaton – Lambert
Syndrome

Distribution of affected muscles

Metabolic Diseases of
Muscles
 Metabolic Diseases of Muscles
 The metabolic diseases of muscle interfere
with chemical reactions involved in
drawing energy from food.
Metabolic Diseases of Muscles

Metabolic diseases of muscle can

affect all the body's voluntary muscles,
such as those in the arms, legs and
trunk.

Also involve heart or liver diseases,

and the kidneys (parenchymatous
organs)
Mitochondrial
Myopathies
 Mitochondrial Myopathies
Definition:
 Diseases that affect the mitochondria (tiny
energy factories found inside all cells) and
interfere with the function of muscles

 Onset:
– Varies according to disease
 Cause:
– A defect in a mitochondrial gene that affects the
function of the mitochondria

 Pathological Findings:
1-Increased numbers of mitochondria with
abnormalities in their sizes and shapes causing
irregular muscle fiber contour
2-May contain inclusion bodies or alterations in the
structure of the cristae
Normal Muscle Irregular Muscle Contour
Symptoms:
 Nervous system impairment
 Eye problems
 Cardiac abnormalities
 Skeletal muscle abnormalities
 Disorders of the gastrointestinal tract
 Toxic Myopathies

 Alcohol: Binge drinking can produce an

acute toxic syndrome of rhabdomyolysis
with accompanying myoglobinuria. It may
lead to renal failure

 Steroids: Proximal muscle weakness and

atrophy may occur in Cushing syndrome or
during therapeutic administration of
steroids
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