This presentation will give a brief idea on proximal myopathy, causes, clinical presentation, history and physical examination, investigations to diagnose the disease easily. It will be more helpful to medical students.

1. Proximal myopathy and
causes
AAM. Amjath
Medicine 4th batch
Fhcs-eusl

2. Myopathy
• Any diseases of muscles.
• Usually affect muscle without involving the nervous system or
any disorders of neuro muscular junction.
• Most common presentation is weakness.
• When it is present in proximal muscles: it is called as proximal myopathy.

3. Myopathy
Primary Acquired
• Muscular Dystrophy (Disorders of
dystrophin)
Ex: Duchenne muscular dystrophy
Limb girdle muscular dystrophy
• Congenital myopathies (Rare)
Ex: Central core disease
Centronuclear myopathy
• Metabolic myopathies.
Ex: Glycogen storage diseases
Lipid storage disease
• Secondary metabolic and endocrine
myopathies.
Thyroid diseases
Ex: Hyperthyroidism, Hypothyroidism
Parathyroid dysfunction
Ex: Hyperparathyroidism
Pituitary dysfunction
Ex: Addison's disease
Corticosteroids
Ex: Cushing's disease, Exogenous steroids
(especially high doses - over 25 mg per day)
Biochemical and DM.
Ex: Hypokalaemia and hyperkalaemia
Secondary to acute gastrointestinal loss.
Disorder of Ca Metabolism
Renal disease and Liquor ingestion.

4. Cont…..
Acquired
• Dermatomyositis and polymyositis : these are inflammatory myopathies with weakness, endomysial
inflammation and elevated muscle enzymes.
Ex: Primary polymyositis (idiopathic adult).
Dermatomyositis (idiopathic adult).
Polymyositis or dermatomyositis associated with neoplasia.
• Drug-induced myopathy
Ex: Statins (Atrovastatin, Simvastatin)
Corticosteroids
Cocaine
• Infectious causes
Ex: HIV
Coxsackie viruses
Influenza
• Polymyalgia rheumatica: Proximal myopathy with associated muscle tenderness.

7. Clinical features
• Weakness predominantly affecting proximal muscle groups (shoulder and limb girdles) is typical
• Weakness manifests itself in different ways at different ages
Ex: Motor delay in the toddler years.
Reduced muscle strength and power in older children and adults.
• Myalgia may occur in inflammatory myopathies.
• Muscle-stretch reflexes are preserved.
• Somatosensory reflexes are preserved.
• Muscle tone normal or reduced.

8. history
• Common symptoms
a. Symmetrical proximal muscle weakness.
b. Malaise.
c. Fatigue.
d. Absence of sensory symptoms (paraesthesia).
e. Atrophy of muscles (and reduced reflexes) occurs late with myopathies (early with neuropathy).

9. • How acute are the symptoms?
a. Weakness over hours suggests toxic cause or episodic paralysis.
b. Weakness developing over days - consider dermatomyositis or rhabdomyolysis.
c. Weakness over weeks suggests polymyositis, steroid myopathy, endocrine myopathy.
•. Pain and tenderness without weakness - consider other causes.
•. Which muscle groups are affected?
a. Proximal muscle groups - difficulty rising from chair, climbing stairs, shaving, hair combing.
b. Distal muscles - difficulty walking (flapping gait), grasping, handwriting.
•. Metabolic myopathies present with:
a. Difficulty with exercise.
b. Cramps and myalgia with exercise (early with glycogen storage disorders and after
prolonged exercise with lipid storage disorders).
c. Myoglobinuria.
d. Progressive muscle weakness in some metabolic myopathies.

10. • Past medical history:
a. Autoimmune disease: Systemic lupus erythematosus, Rheumatoid arthritis, Polyarteritis nodosa.
b. Endocrine disease
c. Renal disease
d. Alcoholism
•. Family history:
a. Muscular dystrophy.
b. Other relevant conditions or myopathies.
•. Medication:
a. Steroids
b. Lipid-lowering drugs
c. Alcohol
d. Colchicine
e. Heroin

11. examination
• Symmetrical proximal muscle weakness.
• Muscle tenderness very rare with myopathy.
• Fever with inflammatory causes.
• There is usually no wasting but there may be hypertrophy of muscle (atrophy is a late sign).
• Reflexes and sensation usually normal.
• Hypotonia is common in some myopathies (for example, congenital myopathies).
• There may be helpful additional signs such as the skin changes of dermatomyositis.
• Urine should be examined - myoglobinuria in acute alcoholic myopathy can cause renal tubular necrosis.

12. Investigations
• Blood and urine tests
These, together with electrocardiogram (ECG) examination, are most useful in acute situations.
a. Creatine kinase (with isoenzymes) - level may be 50-100 x normal reference range.
b. Electrolytes including calcium and magnesium.
c. Serum myoglobin.
d. Urea and serum creatinine.
e. Urinalysis and urine microscopy - myoglobinuria inferred by positive urinalysis with few red cells at microscopy.
f. FBC.
g. ESR.
h. Antinuclear antibodies.

13. • ECG
May show
a. Changes of hypokalaemia - increased P-R interval, U waves, wide QRS and nonspecific ST-T changes.
b. Sinus arrhythmias, deep Q waves and elevated R waves precordially.

14. • Muscle biopsy
• Electromyography
• Magnetic resonance imaging (MRI)