Neuromuscular PEDS

Injuries

contusions

bruise = injury to skin, soft tissue, or bone

bone (or ligament) contusion, muscle contusion = forceful or multiple hit = crushing muscle 

in school age and adolescent w/ sports; toddlers when walking, or if taking anticoag or blood disorder

abuse = in odd areas → cheek, neck, <2yr w/ frequent unless disorder

collision, falls, jumping, 

s/s: blue/ purple → green yellow

if severe → dec movement, pain at the injury site, swelling, ecchymosis

lab/dx:

what happen + causes = age, physical activity, location, how often sustains bruises, Rx blood thining, if lots w.o explanation; if serious → MRI

tx:

ice + rest, elevate to dec swell, no weight on affect limb and immobilize, ibuprofen for pain, PT

wearing safety gear, take steps, avoid extreme movements, remove tripping hazards, balanced diet to help heal

dislocation: 

two bones come apart at joint = tear ligament

not commonly seen w/ still growing, more in older who participate in activities that put excessive force (most common the shoulder joint)

forceful movement = gynastics, basketball, football, soccer, skating, volleyball, Ehler-s Danios

s/s: swelling, bruisng around injury, pain, numb

bilateral extremities ~ be uneven, deformities present, joint movant trouble in certain way if they can measure full dislocation or subluxation

lab/dx:

aks for risks (Ehlers- Danlos syndrome)

imaging= X-R, MRI

neurovascular assessment = 5 Ps

1. Pain

2. Pallor (coloring)

3. Pulse

4. Parethesia (numbness/tingling)

5. Paralysis

tx:

apply ice, joint need to be immobilized, manually place bone back in socket or place sx, splint/ cast, 

if not tx → sx + causes growth to be slowed = limb length discrepancies, loss of ROM

infants will cry, toddlers will point where it hurts, preschool are better bale to express but need parent supprt, school age can describe pain, OT, PT

mobility devices

give doll to show where it hurts

sprains

damage of ligament w/ stretch or twist = ankles and wrists are most common (posterior talofibular, anterior talofibular, and calcaneofibular ligaments) 

due to sports overuse nto given enough time to heal

when growth plates are active, tissues grow at diff rate → low ROM

more in 10-18yr

s/s:
discoloration or ecchymosis, low ROM, pain, swelling

lab/dx: SR, MRI, CT, neurovascular

tx:

PRICE mnemonic 

P: Protection 

R: Rest 

I: Ice 

C: Compression 

E: Elevation 

POLICE mnemonic

P: Protection 

O, L: Optimal Loading (bearing some weight) 

I: Ice 

C: Compression

E: Elevation 

elastic bandage for supporting sprain, low discomfort, control edema

elevation and rest depend on severity, OTC, mobilizing devices, PT

Ice application: 

• 20 minutes at a time while awake, repeating the application several times during the day for the first 72 hours after injury 

• After the first 72 hours, three times a day for 20 minutes each 

• Do not apply directly on the skin (use fabric, such as a towel or cloth, between the skin and the ice) 

• Only apply ice when awake and alert to prevent injury to the skin from prolonged use 

stretch before a sport or running (use good form)

strains

tendon or muscle injury by excessive stretching, excess physical activity, repeated movement w/ little rest , lifting heavy object improperly= more in hamstring and lower back

in 10yr <

growth plates weaker than tendons and muscles = less occurrence in peds

s/s: redness, pain, bruise, swell, low ROM, hold area and not want to use it

lab/dx ~ sprain

tx: immobilize → crutches, wheelchair, splint, compression, PT

bending knees and not being over the back to pick up heavy object

pick up heavy object in high self = ladder or step stool

overuse

high intensity movement, during periods of rest → intense strain + inflammation

when not resting in between activity repeatedly swinging tennis or pitching baseball

>6yr

Sever disease: when growth plate in heel bone becomes infected

• running

osgood-schlatter: top of the tibia (shin bone becomes infected)

• flex thigh muscle → pulls knee tenon (patellar tendons) → stretch tibia tubercle

s/s will develop in few weeks

stress factures and overuse → tenderness, and not want to use extremity

lab,dx: w/ imaging

tx: orthotic heel padding, need crutches, stretching, NSAID, PT, rest, sx

encourage rest from sport 1-2 days/ week, not participate in sports all year round

Preventing Injury

• Warm up before beginning an activity. The goal is to elevate the heart rate and loosen the body. Jumping jacks or running in place are examples of how to warm up. 

• Take time to stretch. 

• Use recommended equipment for the specific activity. It is there for protection. 

• Cool down 10 minutes before ending the physical activity by slowing the speed and intensity of the activity. This phase is complete when the skin is dry and the body feels cooled down. 

• Listen to body signals, and stop activity if pain is experienced. 

• Hydrate well to prevent dehydration. 

• If very physically active, schedule regular days with no physical activity to allow the body to rest.  

mobilization

crutches

hand grips at the same level of hips

crutched is placed 30-5cm in front of weight-bearing foot

armpit not resting on pad, put all weight in crutch instead of injured leg

caines trouble w. balance or diff walking

warm slightly bend at the elbow, not to hold on cane on injured side, caine ahead injured limb

walkers: for more severe

most weight is in arms, keep back straight, all fur devices of legs should be placed on the ground at the same time and small steps be taken

wheelchair: 

some for positioning and others for long term, lock wheels before transfer

tipping should be prevented by placing weight on back, use one direction, and avoid curbs and inclines

fractures

young children have soft bones w/ protective outer bone → severe fractures that result in long-term effects for children

complete = separate to 2 pieces of bone → sx/ incomplete

plastic deformation = bent bone but not broken →  sx to straighten

buckle fractures = torus fracture under 12yr and do not require sx

• excessive pressure creates bulge, more common in forearm

greenstick: slintering of bone w/o fully breaking → seen in  <10yrs

simple/ closed = does not puncture skin; compound/ open 

complicated: splinter into pieces and damage surrounding tissues (diff to tx)

comminuted: bone breaks in at least two places, mostly in large bone → femur

physis (between epiphysis and metaphysis) = weakest bone + growth plate

stress on bone over time; trauma; fall; automobile accident, child abuse, sport-related

idiopathic juvenile osteoporosis = weaker bones,

poor nutrition, low vit D/ ca, obesity, sports, extreme activities

screening:

assess of s/s, pain, bruising, swelling in site, unable to move injury, or bear weight, deformity → confirmed w/ XR, MRI, CT

CBC rule out infection, phosphorus, vit D/Ca 

complications:

impaired circulation and  nerve compression: 

• surrounding tissue damage

• resultant nerve damage → numbness, pain, diff ambulating (ex sciatic nerve damage)

compartment syndrome: when fracture swells excessively → disrupts circulation = pain that continues to worsen, inability to move affected body part, tingling sensation = inc infection low circulation

physeal involvement: disrupted growth damage → growth anomalies or diff lengths

nonunion: fractured bone doesn’t heal due to lack of circulation → sx

malunion: does not heal properly → bone to be shorter/ unexpectedly shaped

risk of infection; pulmonary emboli: fat embolus

heals more rapidly → but ~ have severe growth deformities

tx:

affected area must be filled w/ blood → soft bone → hard bone

immubolizers, sx , PT, reduction (proper alignment)

traction:

pull bones, connective tissues, tendons, muscles together using pullets and weights

skeletal (Buck) traction → pins in bones w/o damaging tissue in pelvis, hip, femur, arm

casts/ splint: keep fracture stable and prevent movement

casts have inner layer for comfort and hard on the outside

splint if not as severe → wrist and easily removed

keep cast or splint dry or removed bathing

• Leave the inside material of the cast intact. 

• Keep the cast dry. Do not submerge it in water or allow it to get wet because it can make the cast soggy, and it will no longer provide the prescribed stability. 

• If itching occurs, do not apply powder or lotion or insert objects inside the cast. This can break the integrity of the skin and could lead to infection. 

• Cool air, such as from a hair dryer on its lowest setting, may provide comfort when itching occurs. 

• Report a change in the shape of the cast, a break in the cast, or if the cast gets wet to the prescribing provider immediately.

under 3 require assessment of medical hx and rule out abuse

Ca = fortified or enriched foods, dairy, nuts, sardines, and green leafy vegetables

Vit D = eggs, salmon, and tuna

no processed foods or refined sugars/  no little food

physical activity for bone strength

wear safety belt, protective gear, clear clutter, no standing in high plaxes, well fitting tennis shows when running, 

sx:

internal fixation: attached to bone itself; external fixation: fixates bones to be help on bracket outside of body

manually align bones

infection

osteomyelitis: 

inflammation within bone and connective tissues → phagocytic cells releasing enzymes

Staphylococcus aureus 

it must be damaged or have a vulnerable spot ( metaphysis → since large blood supply → once blood passes though bone = bacteria settle → necrosis)

or inadequate circulation

risk: compromised immune system + sickle cell, systemic infections, bone break, skin trauma, premature, 

lab/dx: biopsy/ radiology 

CBC for infection, XR, MRI

bone scan = injecting radioactive tracers, which accumulate in tissue that has changed from what is expected, and using a special camera that scans the bone(s) to create an image

s/s: cold + flu s/s= fever, nausea, lethargy, limping w/ extremity, discomfort, redness in skin, swelling above site of infection

exhaustion, discomfort, and difficulty with ADL

tx: IV abx (vancomycin), necrotic tissue → sx, NSAID

prevent skin infections = hand hygiene, open wound washed w/ soap and water → clean guaze

if 1 week to heal → HCP

movement and physical activity → strengthen bones and inc bone density loss

PT

musculoskeletal alterations

torticollis

neck looks “twisted” 

congenital muscular torticollis due to short sternocleidomastoid + trapezius, and splenius or RT to cervical anomalies

if later → acquired torticollis due to dislocation of C1/C2  → cervical nerve compress nerves due to infection, trauma, reflux

constantly turning head to one side, head appear at unexpected angle, fever, problem with balance, h/a, vision, persistent vomiting, intracranial injury, requires investigation

altered appearance

→ plagiocephaly = occur on one side of infant head, poor facial and cervical spine development

lab/dx: CBC if infection, magnetic imaging for severity of muscles involved

risk:

trauma during pregnancy or birth, rheumatoid disorder, neuro disorder, stress to muscle (sudden movement or too much physical load)

tx:

PT, tubular orthosis (collar to straighten neck), if severe → sx 

if acquired = tx injury ~ 6m

assess for hip dysplasia, infection, neuro disorders

use distraction to turn head to other side = bottle in other side

daily exercise to stretch their necks, turn head side to side, encourage affected side being used when doing quiet activity or resting

tummy time

spinal curvature

lordosis: spine tips backward and back is swayed; 

• cervical = neck is pushed forward

• lumbar seen in L4 to S1 pushing his forward

• due to muscular dystrophy, osteosarcoma, kyphosis, poor posture from pregnancy

• lumbar curve if more than 40 degrees of cervical ; thoracic >50 degrees w/ protrusions in upper part of torse   

• tx: braces of PT → sx w/ rod in spine

kypohosis:

• spine tips forward and appearance of pt hunching over = cervical and thoracic

• bad posture caused by slouching = postural kyphosis

• Scheuermann’s = shaped like wedge instead of rectangle

  

• congenital = spine does not properly develop

• sever causes paresthesis in legs, back tightness, pain, fatigue

• tx: PT, back brace who are still growing → sx (spinal fusion) 

scoliosis: curved to side (S side) → uneven shoulders 

• genetic = idiopathic; infant w/ scoliosis (congenital); neuromuscular dysfunction (spina bifida, cerebral palsy)

• moderate > 25 degrees

• uneven hips/ shoulders, asymmetrical rib cage, body leaning to one side

• tx: 

  • prevent worsening of the condition, relieve the manifestations, and improve function

  • spinal brace if not growing 25-45 prevents progression 16-23hrs/ day

  • sx for severe if >40 degrees or worsening condition = fusing spine or expandable rob

  • PT

→ leads to balanced issues, breathing, uneven legs ( unable to stand straight) 

screening w/ physical exam

scoliosis = 10 f , 13 M

MRI, CT, inspect spine

anomalies in the vertebrae, trauma to the spine, degenerative disc disease of the vertebrae, severe slouching, and compensation in the spine.  

Adam’s Forward Bend Test    

• The back should be exposed (either no shirt or wear a bathing suit). 

• Stand with feet together. 

• Bend forward 90 degrees at the waist with the arms loosely dangling down. 

• Findings that should be reported to the health care provider include unevenness in the trunk or curvature in the spine.  

• Mild changes in symmetry may not be obvious when inspecting the spine, but one hand may hang lower than the other.

tx: 

strengthen abd muscles, 

swimming and non-contact sports

Development Dysplasia of Hip

acetabulum= socket of pelvis that the ball of femur fits into

head of femoral bone does not fit into acetabulum → hip dislocation 

more during infancy or early childhood = if head of femur placed weird in femur → cause hip joints to become loose → soft cartilage of acetabulum becomes damaged → shape becomes rounder

→ cause partially lose contact (subluxation), or completely separate (dislocation)

maternal hormones in female infants → loose of joints; breech during last trimester, restricted movement in womb (maldigestion), family hx of DDH or bone disorders

screen: physical exam

Barlow maneuver = adducting legs and gently pushing gown at knees to evaluate hip dislocation

Ostolani by abducting legs while lifting greater trochanter w/ 2 fingers = (+) when reduction of dislocation occurs

s/s:

limited ROM of hip,

toddlers w/ unexpected gait, adolescent with hip pain , diff lengthens in lower extremities

dx: US <6m / XR if >6m

tx:

Pavlik harness → 23hr/day and remove only when bathing infant; 

close monitoring since can cause damage of head of femur →  severe necrosis

Von Rosen splint, Laudanna-developed abduction brace, Ilfeld orthosis, Frejka pillow

if untx → sx or rigid cast

<18m = closed reduction w/ external manipulation

if untx = limit ability to walk

<6m =noninvasive / >6m = invasive

maintain healthy weight

>18m= open reduction sx

orthics

for knee or hip subluxations or dislocations, bone fractures, skeletal deformities, foot pronation, or to provide support for muscle weakness or spasms

by orthotist and custom fit

help think of answers to say to peers, proper fit, schedule of braces (slowly inc time) 

skin chaffing → sore, red, blister, swollen skin

Alcohol rubs, cornstarch, and specialized creams, lotions, or powder, cotton socks

or layers

check for proper fit, cracks, tears, or other indications of wear

legg-calve perthes disease

head of femur dies due to low blood flow → remodeling w. unexpected head shape

due to trauma, blood clot, family hx, male, 2nd hand smoke exposure, lbw, low SDOH

in 4-10yr

1. necrosis

2. fragmentation = bone pieces reabsorbed to body

3. reossification (phase ~ 1-3yrs)

4. remodeling: bone is flat or enlarged

s/s:

low ROM of hip, painful rotation of thigh, differing leg lengths, pain when walking, atrophy of thigh or glutes 

XR height pillar stages:

• a. full height, no density change → b. 50% of height → c. <50%

chronic pain, inc risk of arthritis, ~ develop sx in life

lab/dx = SR, bone scan, MRI

tx:

activity restriction <5yr, PT,, >8yr = sx

younger <5y = better outcomes

make sure limb is not bearing weight until bone has completely formed → swimming

club foot

congenital talipes equinovarus, twisted to side due to shorten tendons → front part is inward, length of total leg less than uneffected

fetal US done before 24 weeks to assess extremities (screen as early has 13 weeks), visually at birth or XR after birth

hx of clubfoot, male, cerebral palsy, birth defects, smoking during pregnancy, breech

tx:

start two weeks after birth = Ponseti method → casts + braces to correct position (HCP stretch foot before cast placement → cast change in 7 days → no more than 10 cast changes → brace = 24hr/day

will continue until 4yrs

sx if not effective or if achilles tendon require repair

• unexpected neurovascular findings, infection after surgery, or damage to the cast

• → ;ater use orthdonics to keep leg straight

• frequent skin checks

if unilateral = tx feet and leg will be smaller

no smoking w/ pregnnacy, or risk of muscoloskeletal alteration

weight bearing, walking, stretch

skeletal alterations

osteogenesis imperfecta

brittle bone disease = mutation of type I - IV collagen in connective tissue → fragile bones w/ unexpected shape

genetic

Types s/s:

1. most common + mild = half amount of collagen 

   1. curvature of spine, loss of hearing due to inner bone ear deformities, triangular head

2. fatal since collagen not functioning properlu

   1. common fractures, and underdeveloped lungs

3. high risk of fractures, w/ smaller stature, loss of hearing, and underdeveloped muscles

4. fragile bones= dental problems, loss of hearing, spine curve

5. mutation of protein = some bones larger than expected → dislocations

6. ~ IV = low bone mineralization → IV s/s

7. hip deformities, short bone = short height

8. growth deficiency + weak bones

leg bowing, barrel chest, sclerae discoloration (gray, purple, blue hue)

~ develop bone tumors, cardiac issue( heart valve dysfunction), loss of vision, inc resp infections, kidney stones, joint problems

lab/ dx:

skin/ bone biopsy to determine collagen, XR, gene test

tx: 

mild = avoid high impact

moderate = managing fracture occurrence + orthopedic measures 

severe = sx

bisphosphonate (ibandronate) = makes bones stronger

• dec vit D + ca levels = supplement

PT

prevent contractures = braces + splints

regular vision and hearing checks

juvenile idiopathic arthritis

autoimmune = body attacks synovial fluid → damage cartilage + bone

• Oligoarthritic (<5 joints like knees and elbows)

• polyarthritis = more in hands/ feet

• enthesis-RT arthritis = (where bones attach w/ other tissue) → hips and spine

• systemic = whole body

• psoriatic arthritis= some joints + psoriasis ( nail and skin disease → rashes, redness, depression of nail surface)

genetic, abx, c/s, breastfeed to reduce risk

s/s:

painful, swollen joints

fever, eye discomfort/ inflammation, redness in eye (enthesis ), rash/ dimpling in nails (psoriatic), diff ambulating, report stiffness

hearing loss, blurred vision developmental delay

CBC, Y-testing, inflammatory markers,  US, XR, MRI

rheumatologists, corticosteroids, DMARDS, immunosuppressants (methotrexate)

OT, PT, physically active (non contact), healthy eating habits (clock method)

SLE

autoimmune attacks healthy tissue = kidney, skin, brain, joints, 

stressors = sun, smoking, fatigue, stress, low vit D infections = exacerbation 

check ANA screen → CBC, rheumatologist, U/A (proteinuria/ hematuria), check on body system for baseline

genetic, inc in hormones (inc in females)

s/s: 

butterfly rash, joint ain, extreme fatigue, fever, hair loss, weight loss, mouth sores, swelling of hands or feet, anemia

tx:

flare ups → hydroxychloroquine

prednisone + immunosupressants

Preventing SLE exacerbation

• Prioritize getting enough rest. 

• Keep all appointments and receive regular follow-ups with the rheumatologist. 

• Comply with the medication regime as prescribed. 

• Avoid over-exposure to sunlight and wear sunscreen.  

• Implement good handwashing and obtain recommended vaccines to prevent infections. 

• Do not smoke. 

cancer

osteosarcoma = found in long bones

creates osteoid = bone cell that has not fully matured 

Classification:

• Low-grade osteosarcoma: Slowest growing cancer 

• Intermediate-grade osteosarcoma: Least common, grows at a rate between low- and high-grade 

• High-grade osteosarcoma: Fastest growing cancer, most common in osteosarcomas  

bone anomalies (exostoses), retinoblastoma, Ollier’s disease, Li-Fraumeni syndrome, polyostotic fibrous dysplasia, or Paget’s disease

exposure to ioning radiation for other cancer tx

s/s: swelling over cancer site, pain w/ activity, lump, fractures

tx: body tissue removal or amputation, but chemo/radiation 1st

ewing sarcoma:

in bone, bone marrow, surrounding tissue → aggressive (ribs/ spine)

→ immidiate tx for whole body

micro metastasis = small cells w/ round nucleus that spread to whole body → necrosis → hemorrhage

black/ asian, amle, previous radiation tx

s/s: swelling and discomfort, inc pain at night or inc activity, diff ambulating or fever

tx: chemo, sx, radiation

rhabdomyosarcoma: 

skeletal muscle (in head / neck) = premature (rhabdomyoblasts → warmless white massess) → quickly multiply → aggressive

cancer stages:

1. good prognosis

2. not favorable, <5cm, not metastized

3. spread to lymph nodes

4. metastasized

Alveolar rhabdomyosarcoma (ARMS) = aggressive and in older children

genetic  (rhabdomyosarcoma) w/ DNA mutations

Li-Fraumeni syndrome, neurofibromatosis, Beckwith-Wiedemann syndrome, or Costello syndrome. 

s/s: depend on location, bulging eyes, pain in ear, painful elimination, vomiting

tx: bone marrow aspiration, lumbar puncture

lab/dx:

XR, CT, bone scan, MRI, PET (uses radioactive sugar to check on cancer cells), 

official w/ tissue biopsy of tumor + malignant

tx:

remove tumor from localized area of body, chemo(vincristine), radiation

• ADR: nausea, diarrhea, hair loss, and damage to their organs

once tissue is removed → reconstruction + joint graft replacement

exercise, no pregnancy

amputation

~ cause required assistance w/ ADL

congenital or traumatic

upper extremity sx amputation:

phalanges, hands by separating hand at the wrist; lower arm = at, below, or above the elbow.

cutting radius and ulna

if above the elbow = cut humerus

if whole arm = shoulder joint = shoulder disarticulation

lower extremity:

congenital: may be noticed during US

when newborn is missing limbs; 

traumatic amputation:

• can use tissue preservation techniques to reattachor may need additional tissue

• severe burns or lack of blood flow : MVA, gunshot wounds

from interruption of blood flow → necrosis + severe infection or aggressive cancers; vascular injury → frostbite, blood clot, septic shock

osteosarcoma >10yr / <10yr = Ewing sarcoma

gangrene → black or purple → sores may occur

phantom limb pain, struggle w/ self image, grief, 

lab/dx: XR, MRI, amputation, biopsy, 

tx:

location and amount of tissue decided by surgeon → sx

rest of tissue formed into stump → prosthetic limb

steel implant = osseiointegration (like a living bone)

PT w/ assistive devices

if growth plate is not damaged → bone will continue to grow → ` overgrowth/spiking  of bone

• swelling, tender, warmth, poor socket fit → sx removal or if not bone will penetrate skin/ ulceration

comfort w/ toys showing their own amputation

make adolescent aware of door slams, reckless driving, farm equipment, fireworks, firearms, 

use seatbelts, car seats

Prosthetics:

infant = prosthetic that does not does not move on its own

upper extremity = will only get operated prosthetics until 1-2yrs

lower= prosthetics w/ knee joint will be given at 2-3 yrs

achieve independence by 5 years old

adjusted qfew years to ensure comfortable fit, check for skin breakdown,

use sleeves or design of device itself to accept prosthesis. 

social and physical challenges

shrinker wrap w/ stump when swelling

if sking integrity or blister = not wear prothesis

remove prosthesis 60-90mins to check for redness and open sores

take prosthesis before sleeping, care of components, liner, sheaths, or suspension sleeves

Neuromuscular Conditions

cerebral palsy (CP)

non-progressive motor dysfunction → anomalies in muscle tone, posture, motion that alters sensory perception, cognitive abilities, communication, and behavioral responses

• Spastic CP presents with increased muscle tone, causing movements to be stiff and awkward.  

• Dyskinetic CP is characterized by impaired muscle tone and presents with slow, uncontrollable, jerky movements of the extremities.  

• Ataxic CP presents with poor coordination and an unsteady, wide gait.  

• Mixed CP is not a single type but a mixed presentation.  

negative impact on fetal or neonatal brain development ~ premature, IUGR, intrauterine infection, antepartum hemorrhage, severe placental pathology, multigestation, post natal events ( cerebral malaria, seizures), genetics

hypoglycemia, meconium aspiration, lack of O2 of fetus or newborn

s/s:

• in early infancy = within 3-6m = head lag, asymmetrical posture/ movements, leg stiff

• hypertonia, spasticity, and dystonia, hypotonia

• persistent or asymmetric hand clenching, tongue retraction, oral hypersensitivity, grimacing, and weak head control

• muscle spasticity, hyperreflexia, extensor plantar responses (Babinski), clonus, weakness, atrophy, loss of dexterity, fatigability, hypotonia, dyskinesia, and ataxia. 

lab/dx:

examination, other impairment : seizure, sensation, perception, cognition, communication, behavior

neuroimaging,

tx: 

routine prenatal care, dec preterm birth, neuroprotective measures

PT/ OT = coordination of movements, functional task completion, strength, and conditioning

braces, orthotics, standers, seating systems, wheelchairs, 

spasticity = PT/OT, orthodic devices, anticonvulsant Rx, botulism toxin → deep brain stimulation

casting + sx (ex Achilles tendon lengthening ->provide stretch + ROM), 

hypotonia

muscle tone is tension when muscle is at rest → responsible for leaving upright position and maintain posture

floppy muscles

lack of resistance when holding infant or when passively stretches or engages joint during assessment and encounter no resistance

vertical suspension, horizontal suspension, and the scarf sign.  

due to muscles, joints, or peripheral or central nervous systems; disorders of metabolism/ hypothyroidism; or hypoxic encephalopathy, prenatal eps, Down syndrome and Prader Willi syndrome., congenital muscular dystrophy, congenital myopathies, spinal muscular atrophy, Tay-Sachs disease, or Patau syndrome

s/s:

low APGAR

tx:

OT, ST, PT, inc nutrition, additional supprt, nasogastric or gastrotomy tubes

spinal muscular atrophy:

autosomal recessive = impacts voluntary motor movement and muscle control necessary for basic system functions, such as muscles used for breathing

SMN1 deficiency, health of motor neurons impact

screening: if carry gene but will not predict if child will have condition

Four Main Types of SMA

lab = physical exam, hx, noting gross motor function

tx:

neurology, pulmonology (BiPAP= weak cough, mucus plug, recurrent resp infection, inc aspiration, <5yr = chest physiotherapy + monitoring and track forced vital capacity),

gastroenterology = GI muscle weakens = constipation, gastric reflux, the risk of aspiration, and delayed gastric emptying

• g-tube placed in type I

orthopedics: I/II more prone to fractures, hip subluxation, scoliosis, 

speech-language pathology: I w/ diff sucking and swallowing

occupational and physical therapists, dietitians, and social workers, pallative care

Nursinersen = inc SMN protein → helps w/ type I, II, III

Risdiplam = inc SMN protein → II/ III

Onasemnogene abeparvove​​​​c =most expensive but has 100% alive pts

of under 2yrs

muscular dystrophy

generalized muscle weakness + degenerative

lack of glycoproteins (dystrophin) in muscle cell membrane = replaces muscle w/ connective tissue → pseudohypertrophy → release CK into blood as muscles are destroyed

( Duchenne (more severe= use wheelchair by 12yr) >Becker muscular dystrophy

Limb-girdle ME affects limbs and trunl

Facioscapulohumeral MD affects the face, neck, and shoulders, and onset is at 10 to 30 years old.

Oculopharyngeal MD affects the face and has an adult onset.

Myotonic MD typically affects the face and extremities, and onset is at 10 to 15 years old. 

screen: check in vitro fertilization. CVS at 10-12 weeks + amniocentesis at 15-18w

X -chromosome mostly as mother being the carrier

s/s:

has developmental delays, appears clumsy, and has delayed mastery of milestones, such as walking or crawling.

Gower’s sign = pelvic girdle becomes unstable → diff walking, waddling gait, diff standing up from seated floor position → contractures → muscle weakness, scoliosis, constant pain

DMD expectancy of <20yrs = remain ambulatory until 15yrs but BMD ~50yrs = remain ambulatory until 25yr  

lab/dx:

chromosomal analysis, genetic testing, immunocytochemistry, electromyography, and a muscle biopsy, ECG

high ALT, SGPT, Aldolase, ABG (acidosis), AST, CK/CPK, CK-MB, LDH, U/A (positive for glucose), MRI, CT

tx:

delandistrogene moxeparvovec for 4-5yr

• malignant hyperthermia if irregular Ca control

lose mobility, bedbound, require devices to move, skin breakdown inc → infection, pressure ulcer, pain, pressure points

glucocorticosteroid = prednisone, deflazacort → delay at 4-5yr

→ improved muscle strength, improved motor function, improved pulmonary function, decreased need for scoliosis surgery, delayed onset of cardiomyopathy, decreased inflammation, and increased total muscle mass.