Myopathy

By: Rey Martino

 Definition

• myopathy is a muscular disease in which

the muscle fibers do not function for any one
of many reasons, resulting in muscular
weakness. 
Classification
1) Congenital
I. Muscular dystrophies
II. Myotonia
III. Congenital myopathies
-nemaline myopathies
-multi/minicore myopahies
-centronuclear myopathy
IV. Mitochondrial myopathies
V. Familial periodic paralysis
VI. Inflammatory myopathies
VII. Metabolic myopathies
-Glycogen storage diseases
-Lipid storage disorder
2) Acquired
I. Dermatomyositis
II. Polymyositis
III. Myositis ossificans
IV. Rhabdomyolisis
Classification of Muscular Dystrophies
Based on Clinical Patterns :
• Duchenne Muscular Dystrophy
• Becker Muscular Dystrophy
• Congenital Muscular Dystrophies
• Fascioscapulohumeral Muscular Dystrophy (FSH)
• Scapuloperoneal Muscular Dystrophy
• Limb-Girdle Muscular Dystrophy
• Oculopharyngeal Muscular Dystrophy
Thank You
Causes & Risk factor
• Inheritable myopathies are caused by a genetic
defect. The most common muscular dystrophies, DMD
and BMD, genetic defect on the X chromosome.

• Risk factors for other types of myopathy include the

following:
– autoimmune disorders (e.g., myasthenia gravis, scleroderma,
thyroiditis)
– Endocrine disorders (e.g., Cushing syndrome, hypothyroidism,
hyperthyroidism)
– Exposure to toxins (e.g., herbicides, insecticides,)
– Infection (e.g., HIV, Lyme disease, trichinosis)
– Vitamin D deficiency, vitamin E or A toxicity
– Medication (e.g., long-term corticosteroid use)
– Metabolic disorder (e.g., glycogen and lipid storage diseases)
Signs and Symptoms
• Skeletal muscle weakness hallmark of most
myopathies, with some noticeable exceptions,
(myotonia and paramyotonia congenita)
• weakness occurs primarily in the muscles of the
shoulders, upper arms, thighs, and pelvis (proximal
muscles). In some cases, the distal muscles of the
hands and feet may be involved advanced stage of
disease.
• Other typical symptoms of muscle disease include the
following:
– Aching
– Cramping
– Pain
– Stiffness
– Tenderness
– Tightness
Complication
• If heart (cardiac) muscle is affected in later stages of disease,
abnormal heart rhythms or weakness of the heart muscle
(cardiomyopathy) may develop. A patient with cardiomyopathy is
at risk for congestive heart failure (CHF).

• myopathies can cause significant breathing difficulties and an

increased risk for pneumonia, flu (influenza), and other
respiratory infections.

• When swallowing muscles are affected, patients with myopathy

are at increased risk for choking and malnutrition.
Diagnosis
• Complete family history
• Clinical and Neurological Evaluation 
• Blood Tests: Creatine kinase (CK), Lactic
dehydrogenase (LDH), Pyruvate kinase (PK)
• Electromyogram
• Muscle Tissue Biopsy
Treatment
•  Muscular Dystrophies
–  to slow the progression of disease and relieve symptoms.
– Corticosteroids (e.g., deflazacort, prednisone) improve
strength and walking ability for about 6 months in boys with
Duchenne dystrophy.
– Preventive treatment for permanent contraction of a muscle
(contractures) includes physical therapy and bracing
– Heel cord surgery (tendon release) and spine-straightening
surgery (i.e., rod insertion) may be necessary in cases of
severe contractures.
• Endocrine Myopathies
– treating the underlying condition helps relieve muscle
weakness and pain associated with endocrine myopathies.
•  Inflammatory Myopathies
– Prednisone high doses (up to 100mg/day) and then slowly
tapered to the lowest possible dose that relieves symptoms. 

• Metabolic Myopathies
– primary goal in treating metabolic myopathies is to avoid
situations that tax the muscles and promote muscle pain and
weakness, like strenuous exercise.
Thank You