Muscle and nerve disease Flashcards
What is the presentation of muscle disease in babies?
Poor suck/feeding
Failure to thrive
Floppy
What is the presentation of muscle disease?
Weakness or skeletal muscles
SOB
Cardiomyopathy
Cramp, pain, myoglobinuria
What are the signs of muscle disease?
Wasting/hypertrophy
Normal/reduced tone and reflexes
Motor weakness
What investigations should be done for muscle disease?
History and exam Creatine kinase EMG Muscle biopsy Genetic testing
What are the classifications of muscle disease?
Muscular dystrophies Channelopathies Metabolic muscle disease Inflammatory muscle disease Congenital myopathies Iatrogenic
What are channelopathies?
Disorders of Ca, Na and Cl channels
What are the metabolic muscle diseases?
Disorders of carbohydrate or lipid metabolism
Mitochondrial myopathies
Endocrinopathy
Biochemical abnormalities
What is the presentation of inflammatory muscle disease?
Painful weak muscles with characteristic rash
What investigations should be done for inflammatory muscle disease?
Creatine kinase- increased
EMG
Biopsy
What is the treatment of inflammatory muscle disease?
Immunosuppression
What causes iatrogenical muscle disease?
MEdication
What is the clinical presentation of neuromuscular junction disease?
Fatiguable weakness Ptosis Bad talking SOB Diplopia Trouble chewing and swallowing
What is myasthesia gravis?
Autoimmune disease caused gy antibodies against NMJ nicotinic cholinergic receptors
What investigations should be dine for myasthensia gravis?
Bloods- antibodies
Singe fibre EMG- jitter
CT chest
What is the treatment of myasthesia gravis?
Acetylcholinesterase inhibitors
Immunosuppression
Immunoglobulim/plasma exchange
Thymectomy