neuromuscular disorders

a group of permanent movement disorders caused by non-progressive disturbances in the developing fetus or infant brain

cerebral palsy

what is the most common motor disability in childhood

cerebral palsy

what does cerebral palsy affect

posture, movement, sensory processing, cognitive abilities, communication, behavior

prenatal cause of cerebral palsy

infection during pregnancy, maternal health issues and genetic mutations

perinatal causes of cerebral palsy

birth asphyxia (no O2 during delivery for a long time), premature birth, low birth weight

post natal causes of cerebral palsy

severe jaundice untreated for a long time, infections (meningitis), head injuries

what are the classifications of cerebral palsy

soastic CP, dyskinetic CP, ataxic CP, mixed

a type of cerebral palsy with increased muscle tone, unpredictable spastic head movements, and coordination problems

spastic

most common type of cerebral palsy

spastic

type of cerebral palsy with involuntary movements including dystonia and choreoathetosis

dyskinetic cerebral palsy

type of cerebral palsy with balance and coordination difficulties

ataxic cerebral palsy

gross motor function classification of cerebral palsy that has: minimal limitations, can walk without restrictions, may have limitations in advanced motor skills like running/jumping but typically are independent in mobility and daily activities

level 1

gross motor function classification of cerebral palsy that has: mild limitations, can walk in most settings but may require assistance for long distances or uneven terrain, has minimal difficulties with balance and coordination and may use mobility aids for outdoor distances

level 2

gross motor function classification of cerebral palsy that has: moderate limitations and walks with a handheld mobility device indoors, may use wheelchairs for longer distances or uneven surfaces and may need help with transfers

level 3

gross motor function classification of cerebral palsy that has: severe limitations, primarily relies on wheeled mobility for most seeings and may achieve limited self mobility w assistance or powered devices but has significant limitations in self initiated movement

level 4

gross motor function classification of cerebral palsy that has: profound limitations, severe restrictions in voluntary movement and will depend on caregivers for all mobility and positioning with limited ability to maintain head and trunk posture

level 5

is cerebral palsy progressive

NO but secondary complications may be progressive (fractures from severe scoliosis can get worse)

what hx questions are good to ask when evaluating for cerebral palsy

stress or illness in preg? severe injury in preg? (car wreck), baby in NICU for long time? , vaginal birth? difficult/long birth? when did sx start? meeting milestones? what happened right after birth?

what may you evaluate on physical exam for cerebral palsy

gait, posture, range of motion, deformities in joints, muscular issues etc

what may you evaluate on neurological exam for cerebral palsy

coexisting shit, seizures, cognitive impairments, speech and language abilities, visual capabilities, milestones reached

what is the preferred imaging to confirm a cerebral palsy dx

MRI

what is the benefit of diagnosing cerebral palsy early

prompt interventions (PT and OT to enhance motor skills and prevent secondary complications

increase family support and education (giving access to resources, training, and support for caregivers)

allocate resources to ensure families get early access to adaptive equipment and assistive tools

how does developmental surveillance help to diagnose cerebral palsy early

regular well child checks to identify milestone delays (rolling, sitting, crawling, walking) and using standardized screening tools like the Ages and Stages Questionnaire or the Denver Developmental Screening Test

motor red flags for cerebral palsy in infants

poor head control (not lifting head during tummy time), persistent primitive reflexes (moro or tonic neck reflex), asymmetric movements

tone red flags for cerebral palsy

hypertonia (inc tone) or hypotonia (dec tone), that persists beyond expected developmental stages

feeding red flags for cerebral palsy

trouble with sucking, swallowing, or managing solid foods

what diagnostic testing can we do for cerebral palsy

MRI IS GOLD STANDARD, CT is second line

genetic and metabolic testing used when cerebral palsy is suspected to be part of a broader syndromic condition

how do we manage cerebral palsy

PT, OT, Speech Therapy to improve quality of life, lots of support from provider

meds for spasticity (baclofen or botulinum toxin) and seizure meds

orthopedic surgeries and selective dorsal rhizotomy for spasticity management

reasonable goal setting with parents early on, involve families in goal setting and therapy planning to align w the child’s and families priorities

use of orthotics, mobility aids, and communication devices to maximize independence and participation in activities

therapy that promotes mobility, balance, and strength while preventing contractures

PT

therapy that focuses on improving daily living skills and hand-eye coordination

OT

therapy that supports communication and feeding skills, esp in cases w dysarthria or dysphagia

speech therapy

indications for a good prognosis in cerebral palsy

mild motor impairments, early intervention, good cognitive function

indications for a poor prognosis in cerebral palsy

severe motor impairments, intellectual disability, complete dependency on caregivers, seizures

complications of cerebral palsy

neurological: seizures, cognitive impairment

musculoskeletal: spasticity, scoliosis, hip dislocation

feeding: dysphagia, malnutrition, aspiration (feeding may decline and lead to choking/coughing)

respiration: infections, aspiration pneumonia

secondary: osteoporosis, pressure ulcers in those non-ambulatory

a chronic, immune mediated disease of the CNS that involves inflammation, demyelination and neurodegeneration that will lead to neurological disability over time

multiple sclerosis

what does the myelin sheath normally do

facilitate fast and efficient nerve conduction

what is the pathophysiology of multiple sclerosis

immune cells attack the myelin sheath → inflammation, demyelination, and axonal loss → formation of sclerotic plaques in the CNS

black holes on an MRI for a pt w multiple sclerosis indicates what

irreversible damage

an early (20-early 30s) dx of multiple sclerosis often means what kind of progression

slower

a late (late 30s-40s) dx of multiple sclerosis often means what kind of progression

faster

only 1 brain lesion seen on an MRI for a pt being evaluated for multiple sclerosis means what

pre-MS called clinically isolated syndrome

what multiple sclerosis tx has some anecdotal evidence towards it but furbey talked about it for foreverrrrrrrr

HUGE Vit D dose to limit progression/improve sx/reverse it

what is the wahls protocol

a dietary tx for multiple sclerosis

risk factors for multiple sclerosis

genetics (family hx, variants in HLA-DRB1 gene)

environmental factors (vit D deficiency, smoking, obesity, geography, often seen in temperate climates)

epstein-barr virus infections, other viral or bacterial infxns

age and gender (more in 20-40yo women)

immune system dysfxn/hx of other autoimmune shit

what is the most common type of multiple sclerosis

relapsing-remitting multiple sclerosis

how does relapsing-remitting multiple sclerosis often start

often starts with 1 major episode (most often optic neuritis)

if a pt comes in with their first episode of relapsing-remitting multiple sclerosis what will be the inital tx we start them on

give them a ton of corticosteroids and then taper the dose when sx die down and then give them the long term MS meds

what are the types of multiple sclerosis

relapsing-remitting, secondary progressive, primary progressive

relapsing remitting multiple sclerosis characteristics

characterized by clearly defined episodes of neurological sx (relapses) followed by periods of partial or complete recovery (remission)

most importantly will see relapses and remissions in this phase

incomplete recovery after each relapse may lead to accumulating disability over time

common sx of relapsing-remitting multiple sclerosis

visual disturbances (optic neuritis), sensory changes (numbness/tingling), motor weakness and fatigue

form of multiple sclerosis where the disease progression shifts from a pattern of relapses and remissions to a more steady and gradual worsening of sx, often w fewer or no relapses

secondary progressive multiple sclerosis

secondary progressive multiple sclerosis characterized by ________

a gradual accumulation of neurological disability (progressive worsening of neurological function)

what does relapsing-remitting multiple sclerosis transition into

secondary progressive multiple sclerosis (often 10-20yrs after MS onset but can be earlier)

a form of multiple sclerosis characterized by a gradual worsening of neurological function from the onset of the disease, without distinct relapses or remissions, just a steady progression of disability over time with constant sx

primary progressive multiple sclerosis

what does secondary progressive multiple sclerosis eventually transition to

primary progressive multiple sclerosis

what causes temporary flares in relapsing-remitting multiple sclerosis

inflammation

why do you not see relapses in primary progressive multiple sclerosis

because in primary progressive multiple sclerosis the damage to the axons and neurons is permanent

pathophysiology for primary progressive multiple sclerosis

disease progression primarily from ongoing neurodegeneration, rather than the inflammatory relapses seen in other types of multiple sclerosis. often involves damage to oligodendrocytes, neurons, and axons

often seen less inflammation and more pronounced involvement of the cortex and spinal cord

demyelination still happening but less and gliosis (scar tissue) inc

what new physical characteristics may you see in primary progressive multiple sclerosis

loss of bladder control, (loss of bowel control is uncommon), now wheelchair bound

an inflammatory condition of the optic nerve, commonly associated w demyelination

optic neuritis (frequent initial presentation of MS or can be on its own or as part of something else systemic/autoimmune)

what is marcus gunn pupil

when you do the pen light test and one pupil stays dilated and one constricts

how do we diagnose multiple sclerosis

McDonald criteria, MRI (will see gadolinium enhancing lesions for active plaques) and a CFS test (done if the MRI is unclear, will see oligoclonal bands in CSF)

how do we manage acute relapses of multiple sclerosis

high dose corticosteroids (methylprednisolone)

what disease modifying therapies (DMT’s) can we do for multiple sclerosis (will slow progression but not cure)

interferons, glatiramer acetate, natalizumab, ocrelizumab, siponimod

symptomatic tx for multiple sclerosis spasticity

baclofen and tizanidine

symptomatic tx for multiple sclerosis fatigue

amantadine, modanifil

favorable prognosis signs for multiple sclerosis

early tx, younger age of onset, relapsing-remitting MS subtype, low lesion burden

poor prognosis signs for multiple sclerosis

primary progressive MS subtype, older age, man, high lesion burden

multiple sclerosis complications

neurological: spasticity, optic neuritis, ataxia, cognitive impairment

bladder/bowel: incontinence, infections

fatigue and psychological: depression, anxiety

secondary issues: infxns, osteoporosis from steroids

an autoimmune disorder characterized by muscle weakness due to the dysfunction of the neuromuscular junction

myasthenia gravis

what is the most common disorder of the neuromuscular transmission

myasthenia gravis

when are people most often diagnosed w myasthenia gravis

peak in 20-30s w women and peak in 60s-80s w men

what makes myasthenia gravis sx WORSE

WEAKNESS GETS WORSE THE MORE YOU STIMULATE THE MUSCLE !!!!!!!!

whats the pathophysiology of myasthenia gravis

Ach cant get from the presynaptic terminal to the post synaptic terminal because antibodies are stopping the Ach from getting to the post synaptic receptors

OOOORRRRRR

Ach cant get to post synapic receptors because the proteins that organize the Ach in the post synaptic cleft are inhibited so the Ach gets jumbled up

what is the cause of the main kind of myasthenia gravis

autoantibodies target Ach receptors (AChRs)

what is myasthenia gravis often linked to

thymic abnormalities (like thymoma or thymus hyperplasia)

hallmark sx of myasthenia gravis

fluctuating muscle weakness WORSE WITH ACTIVITY

sx of myasthenia gravis

ptosis (drooping eyelids) and diplopia (double vision), bulbar (mouth) sx like dysphagia and dysarthria, proximal muscle weakness, fluctuating muscle weakness worse w activity, normal deep tendon reflexes, NO sensory deficits

type of myasthenia gravis limited to eyelids and extraocular muscles (ptosis, diplopia sx)

ocular myasthenia gravis

type of myasthenia gravis that affects bulbar, limb, and respiratory muscles

generalized MG

how do we diagnose myasthenia gravis

get complete hx and physical (w full neurologic eval)

no universally accepted dx criteria, just put a lot of shit together

dx is made when pts have fatiguability and weakness of muscles/fluctuating strength PLUS abnormal dx tests

bedside dx tests for myasthenia gravis

ice pack test: putting an ice pack on eyes w ptosis and if the ptosis improves that confirms MG

edrophonium test: transient improvement in strength (not used anymore)

serological tests to dx myasthenia gravis

AChR antibody test (85% sensitive in generalized MG) and MuSK antibodies (40-70% in serogenative MG)

which type of myasthenia gravis is most common, has generalized weakness or can start as ocular only and progress to generalized or just stay ocular

ACh antibody positive MG

which type of myasthenia gravis is associated w thymic abnormalities and can improve w a thymectomy, esp in younger pts w thymic hyperplasia

ACh antibody positive MG

which type of MG often responds to acetylcholinesterase inhibitors like pyridostigmine (also responds to immunotherapy consisting of IVIG, PLEX, and steroids)

ACh antibody positive MG

which type of MG is more rare and has predominantly bulbar weakness (dysarthria, dysphagia, and weak neck flexors) and has more severe respiratory involvement, leading to inc risk of myasthenic crisis

muscle-specific kinase (MuSK) antibody positive MG

which type of MG has less ocular involvement and more focal muscle atrophy and muscle fasciculations

muscle-specific kinase (MuSK) antibody positive MG

which kind of MG is NOT associated with thymic abnormalities, doesnt improve w thymectomy, and responds poorly to acetylcholinesterase inhibitors like pyridostigmine

muscle-specific kinase (MuSK) antibody positive MG

what is the preferred tx for muscle-specific kinase (MuSK) antibody positive MG

rituximab or plasma exchange more so than traditional immunosuppressants (can also do IVIG or PLEX)

what electrophysiology or imaging studies can we do to dx myasthenia gravis

repetitive nerve stimulation (pos test if muscle gets more fatigued as you go)

single fiber EMG (MOST sensitive)

chest CT to eval for thymoma

what is associated w seropositive myasthenia gravis and what improves it

thymus hyperplasia/thymoma, disease improves or disappears after thymectomy (often seen w AChR antibodies)

what is associated w seronegative myasthenia gravis

these pts have no detectable levels of AChR antibodies but lots of them have MuSK antibodies, often ween w congenital myasthenia due to mother w myasthenia gravis passing antibodies through the placenta

what is the difference between myasthenia gravis and lambert-eaton myasthenic syndrome

lambert-eaton looks like MG but weakness GETS BETTER WITH STIMULATION INSTEAD OF WORSE

acute tx for myasthenia gravis (myasthenic crisis)

ICU admit for respiratory support, plasmapheresis or IVIG to remove autoantibodies temorarily

chronic myasthenia gravis tx

symptomatic tx: pyridostigmine (inhibits acetylcholinesterase, improving muscle strength) (cant use too much or will cause a cholinergic crisis)

immunosuppression: first line corticosteroids (prednisone), steroid sparing agents like azathioprine, mycophenolate mofetil

thymectomy indicated for thymoma or generalized MG even w/o thymoma to improve long term outcomes

PT to prevent deconditioning

monitor for complications like aspiration pneumonia

favorable prognosis signs in myasthenia gravis

early dx, thymectomy in AChR positive cases, effective immunosuppression

complications for myasthenia gravis

acute: myasthenic crisis (respiratory failure) triggered by infxn, stress, or med non-compliance

chronic: aspiration pneumonia (sign its hospice time), dysphagia, fatigue,

tx related: cholinergic crisis from pyridostigmine overdose, osteoporosis, DM and infxns from long term corticosteroid use