MYOPATHIES

Definitions
From Braddom:
A group of muscle diseases whose most common primary symptom is proximal limb muscle weakness. Differ in etiology, course, specific muscle involvement, and associated problems.

 From DeLisa:
Any disease of muscle resulting from any biochemical, electrical, or other pathologic change occurring in muscle fibers or the connective tissue of muscles. Pathology is not a result of nervous system dysfunction.

 From Harrison:
Disorders with structural changes or functional impairment of muscle.

 Important points in the definitions given are:

A GROUP OF CONDITIONS Affects SKELETAL MUSCLE Primary problem is MUSCLE WEAKNESS, specifically of PROXIMAL LIMBS Must RULE OUT NEUROLOGIC DISEASE

Classification
Braddom:
Dystrophies Congenital myopathies Metabolic myopathies Endocrine myopathies Inflammatory myopathies Infectious myopathies Toxic myopathies

 ICD-9-CM Diagnosis 359: Muscular dystrophies and other myopathies

359.0: Congenital hereditary muscular dystrophy 359.1: Hereditary progressive muscular dystrophy 359.2: Myotonic disorders 359.3: Periodic paralysis

 359.4: Toxic myopathy 359.5: Myopathy in endocrine diseases classified elsewhere 359.6: Symptomatic inflammatory myopathy in diseases classified elsewhere 359.8: Other myopathies 359.9: Myopathy unspecified

Epidemiology
Condition-specific Most researched are the muscular dystrophies

Etiology
Either:
Inherited Acquired

Pathophysiology
Inherited:
X-linked recessive Autosomal recessive Autosomal dominant

Acquired

X-linked Recessive

Autosomal Recessive

Autosomal Dominant

Clinical Manifestations
Muscle weakness
Primary

Muscle pain, cramps, stiffness

Associated with involuntary muscle activity

Muscle enlargement or atrophy

Complications
Contractures Functional limitations and disabilities Respiratory distress Death

Diagnosis
History
Look for:
Family history Exposure

Physical examination
Primarily on musculoskeletal system

 Laboratory tests
Serum enzymes
Creatinekinase (CK) Aspartate aminotransferase (AST) Alanine aminotransferase (ALT) Lactic dehydrogenase (LDH) Gamma-glutamyl transferase (GGT) Aldolase

Electrodiagnostic studies

 Other laboratory tests

To diagnose specific types of myopathy
DNA analysis Forearm exercise test Muscle biopsy

Differential Diagnosis
Through correlation of history, physical examination, and lab tests Then, compare to a table of possible diagnoses

Prognosis
Varying as to type
Some have minimal limitation Some are progressive Some are life-threatening/fatal

Medical Management
Depend on:
Type of disease Causes

Supportive and symptomatic treatment may be the only treatment available or necessary for some disorders Medications:
Immunosuppresion (Steroids-Prednisone)

Other Management
Respiratory therapy Surgery Occupational therapy Long-term caregiving

PT Examination/Evaluation
History
Family history Exposure Progression of condition

Physical examination
Musculoskeletal system Functional assessment Pulmonary assessment

PT Problem List
Muscle weakness
Focus of PT intervention

Presence of or risk of complications

Musculoskeletal Pulmonary

Muscle pain
Not usually treated by PT

PT Diagnosis
Depending on type, may fall under:
Impaired joint mobility, motor function, muscle performance, and range of motion associated with connective tissue dysfunction Impaired joint mobility, motor function, muscle performance, and range of motion associated with localized inflammation Other diagnostic classification

PT Goals
Improve muscle strength (if nonprogressive) Prevent further muscle weakness (if progressive) Prevent musculoskeletal/pulmonary complications Address functional limitations/disabilities

PT Intervention
ACUTE:
May be necessary to perform preparatory intervention (ROM, stretching) Patient education Risk reduction (for risk of complications) Modalities need to be justified

 SUBACUTE-CHRONIC:
Muscle strengthening
Precaution on fatigue Use functional activities in strengthening

Functional activities

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