Muscle and Nerve Diseases Flashcards
What energies do muscles convert?
Chemical energy into mechanical energy
What are some components required for a muscle to convert chemical energy into physical energy?
Structural components
Contractile mechanism
Excitation-contraction coupling (ion channels)
Energy system
What are some symptoms of muscle disease?
Weakness of skeletal muscles
Shortness of breath if respiratory muscles
Poor swallow/aspiration if bulbar muscles
Cardiomyopathy
Cramp
Pain
Stiffness
Myoglobinuria
What are signs of muscle disease?
Wasting/hypertrophy
Normal or reduced tone and reflexes
Motor weakness, no sensory reflex
What investigations are done for muscle disease?
History and examination
Creatine kinase (CK)
EMG
Muscle biopsy (structure, biochemistry, inflammation)
Genetic testing
What are the different categories of congenital/genetic muscle diseases?
Structural (muscular dystrophies)
Contractile (congenital myopathies)
Coupling (channelopathies)
Energy (enzymes/mitochrondia)
What are the different classifications of acquired muscles diseases?
Metabolic (Ca, K)
Endocrine (thyroid, adrenal, vitamin D)
Inflammatory muscle disease
Iatrogenic (medication such as steroids or statins)
Is CK often high or low in muscular dystrophies?
High due to cell degeneration
What are examples of mucular dystrophies?
Duchenne’s/Becker’s (dystrophin)
Fascioscapulohumeral/oculopharyngeal/limb girdle
Myotonic dystrophy (cataracts)
Are there any specific treatments for muscular dystrophies yet?
No
What are channelopathies?
Disorders of Ca, Na, K and Cl channels
What are common symptoms of channelopathies?
Paroxysmal symptoms such as periodic paralysis/myotonia
What is myotonia?
Inability to relax voluntary muscles after vigorous effort
What are energy production muscle disorders also known as?
Metabolic myopathy
What is are metabolic myopathy disorders induced by?
Exercise induced
Early are disorders of carbohydrate metabolism
Late are disorders of lipid metabolism
Mitochondrial problems
What are inflammatory muscle diseases also called?
Inflammatory myopathies
What are examples of inflammatory myopathies?
Polymyositis
Dermatomyositis (DM)
What is the clinical presentation of inflammatory myopathies?
Painful, weak muscles
Characteristic rash of DM
What is seen in blood tests for inflammatory myopathies?
High CK
Autoantibodies
What investigations are done for inflammatory myopathies?
EMG
Biopsy