Muscle and nerve disorders Flashcards
where does the UMN span
cortex through spinal cord and anterior horn cell
where does the LMN span
anterior horn cell to nerve ending muscle
what are muscles designed to do
designed to covert chemical energy into mechanical energy
what are the components of the chemical to mechanical process
Excitation-contraction coupling
contractile mechanism
Structural components
The energy system
what are the symptoms of muscle disease
Poor suck / feeding / failure to thrive / floppy
Weakness of skeletal muscle
Short of breath (respiratory muscles)
Poor swallow (aspiration)
Cardiomyopathy - heart failure, arrhythmias
Cramp, pain, myoglobinuria (muscle breakdown, excrete myoglobin in urine - turns urine black)
what are the signs of muscle disease
Wasting/ hypertrophy (because muscles aren’t relaxing)
Normal or reduced tone and reflexes
Motor weakness…NOT sensory
what investigations can be done for muscle disease
History and examination
CK - elevated creatinine kinase
EMG
Muscle biopsy
- Structure
- Biochemistry
- Inflammation
Genetic testing
what are the different types of muscle disease and where can they occur
Muscular dystrophies
Channelopathies
Metabolic muscle disease
Inflammatory muscle disease
Congenital myopathies
Iatrogenic - medication
occur all along the sarcolemma (muscle cell membrane)
what do muscular dystrophies affect
mechanics of the muscle – structure – most genetic
what are the different types of muscular dystrophies
Duchennes MD - dystrophin protein defect
Beckers MD - dystrophin protein defect
facioscapulohumeral MD - facial weakness, scapular weakness, biceps weakness
myotonic dystrophy
limb-girdle MD - upper and lower limb proximal weakness
what are chanelopathies
disorders of Ca, Na, Cl channels
Symptoms episodic – periods of weakness – or muscles that don’t relax – due to irregular channel fluxes
list some chanelopathies
Familial hypokalemic periodic paralysis
Hyperkalemic periodic paralysis
Paramyotonia congenita
Myotonia congenita
what is affected in Familial hypokalemic periodic paralysis
K channels
Most common – intermittent symptoms – can last minutes, days – key to measure K – often associated with thyroid disease
what is affected in hyperkalemic periodic paralysis
K channels
what is affected in paramyotonia
Ca channels
what is affected in myotonia congenital
Ca channels
muscles feel stiff - constant low level contraction
give examples of metabolic muscle disease
Disorders of carbohydrate metabolism
Disorders of lipid metabolism
Mitochondrial myopathies/ cytopathies
Endocrinopathy (thyroid, Cushing)
Biochemical abnormalities
what do disorders of carbohydrate metabolism cause
low level weakness but much larger weakness on exercise