NMD Part 1 Flashcards
what is neuromuscular disease
disorders of the motor neuron (ant horn cells and peripheral nerves), neuromuscular junction, and ms
what dx are encompassed by the term NMD
dx that directly (myopathy) or indirectly (neuropathy) impair function of skeletal ms (primarily)
what is myopathy
disorder of ms cells & fibers may be inherited or acquired
what is Duchenne’s
genetic problem affecting dystrophin production which impacts the ms itself
what are 4 inherited types of myopathies
* don’t need to memorize*
mitochondrial
congenital
metabolic
muscular dystrophies*
what are 6 acquired types of myopathies
don’t need to memorize
- autoimmune/inflammatory myopathy
- toxic myopathy
- endocrine myopathies
- infectious myopathies
- electrolyte imbalance
- critical illness myopathy
what is neuropathy
damage or disease of motor neurons in spinal cord and/or neuromuscular junction
what is the etiology of neuropathies in NMD
genetic mutation OR spontaneous mutation that becomes genetic
no environmental component
age of onset for dystrophies/neuropathies
infancy to adulthood
what is the motor function of dystrophies/neuropathies
range from complete dependence to complete independence
what is the progression of dystrophies/neuropathies
months to many years
what is the heterogenous presentation of dystrophies/neuropathies
prox -> distal
distal -> prox
prox = distal
what are 3 common s/sx (impairments) of dystrophies/neuropathies
- weakness (dec strength)
- exercise intolerance (dec endurance)
- fatigue easily (ms fatigue)
what are 4 secondary impairments to weakness d/t dystrophies/neuropathies
dec tone
atrophy
dec coordination
contractures
what are 5 characteristics/sx of dystrophies/neuropathies
ms cramping
twitching
atrophy
joint pain
hypotonia
dystrophies/neuropathies: progressive?
yes - varying rates
what are 3 factors that the prognosis depends on
age of onset
type of NMD
motor function @ time of dx
what is an activity that many patients will lose the ability of
ambulate (globally)
what is the life expectancy
short to normal
- varies by dz & severity
what is the cause of death typically in NMD
cardiopulmonary complications
what is the goal of treatment
no cure - treatment to prolong life
what are 6 red flags when screening NMD in children
CK levels elevated
tongue fasciculations
absent DTRs
(+) Gower’s sign
lack of development of major motor milestones
loss of motor milestones
what is one of the first signs of NMD in children that is a red flag
tongue fasciculations
what is the definition of the red flags identified when screening for NMD in children
related to a prompt referral, urgent (vs emergent)
- put a call to PCP when with them
does depend on presentation
