PT 705 Exam 2 New Content

Exam 2 cumulative

Muscular Dystrophy- Overview

• Neuromuscular disease 

  • motor neuron (anterior horn cells and peripheral nerves) 

  • Neuromuscular junction 

  • Muscle 

• Hallmark sign is weakness 

• Genetic component 

• No cure, but can be treated/ managed → Prevention of 2ndary complication 

• Muscle atrophy → contractures → progressive disability → progressive weakness

Duchene MD- chart

• Onset: 1-5 years 

• inheritance: X-linked 

• Disease progression: rapidly progressive; loss of walking by 9-10 yrs; death in late teens to 20’s 

Beckers MD- chart

• Typical onset: 5-10 years 

• Inheritance: x-linked 

• Disease Progression: slowly progressive; maintain walking past 16; life span into 3rd decade or beyond 

Congenital MD- Chart 

• Onset: birth

• Inheritance: recessive

• Disease Progression: Dependent on genetics, variable severity;  shortened life span 

congenital myotonic dystrophy- chart 

• onset: Birth 

• Inheritance: Dominant 

• Disease progression: typically slow with significant intellectual impairment 

Childhood-onset facioscapulohumeral- chart 

• Onset: 1st decade 

• Inheritance: dominant/ recessive 

• Disease progression: Slowly progressive loss of walking in later life; variable life expectancy

Congenital muscular dystrophy

• Groups of muscular dystrophies that are Dx at or near birth

• muscle weakness and other joint restriction or laxity

• shortens life

• may involve spinal curvature, respiratory insufficiency, intellectual disabilities, eye defects or seizures

• Genetic mutations affecting some of the proteins necessary for muscles and smeties for the eyes and or brain

Congenital myotonic dystrophy

• 2 types 

• characterized by severe hypotonia and weakness at birth 

• Often w/ respiratory insufficiency 

• mortality in the neonatal perior may be 30-40% 

• After neonatal period, strength is typically stable until adolescence w/ gradual deterioration subsequently evident, rarely rapid increasing weakness may occur in young adults 

• bulbar muscle weakness may also produce swallowing difficulties, speech and language difficulties 

Childhood-onset facioscapulohumeral MD

• 95% of cases of FSHD are cuased by genetic deletion on chromosome 4

  • infantile FSHD is associated w/ larger deletion size 

• Wide range of severity and age of onset 

• Progressive wasting of skeletal muscle, often first noticed in fscial, shoulder, back and upper arm muscles, and can progress to any skeletal muscle 

  • slow progression 

• May have low muscle tine, delayed development, and fascial weakness 

• can involve visual problems due to abnormal blood vessels in the eyes, and progressive sensorineural hearing loss

Emery-Dreifus MD

• 3rd most common from of muscular dystrophy

• can be autosome recessive (rare), dominant, x-linked 

• Affects the muscles of the arms, legs, face , neck, spine and heart

• Clinical triad of weakness and degeneration (atrophy) of certain muscles, joints that are fixed in a flexed or extended position (contractures), and abnormalities affecting the heart (cardiomyopathy) 

• Muscle weakness and atrophy is usually slowly progressive during the first three decades of life

Duchenne Muscular Dystrophy

• Incidence: 1 in 3500 live-born males 

• Prevalence: 3 cases per 100,000

• Initial Dx around 5 years 

  • often s/s starting by 2.5 y/o 

  • significant delays in gross motor skills 

• 90% in WC by age 15 → one of the most serious genetic diseases in children worldwide 

Pathophysiology of DMD

• Genetically based dystrophin deficiency in muscle cell

  • up to 1/3 may not be hereditary; high spontaneous mutation rare

• The protein dystrophin is not produced 

  • Destabilizes the muscle cell membrane 

    • influx of calcium into the sarcoplasm

    • activation of proinflammatory cytokines 

    • Mitochondrial dysfxn 

      • → progresive muscle degeneration 

DMD Dx

• Hx

• Clinical exam 

• EMG

• Ultrasound 

• Bloodwork: creatine phosphokinase 

• Genetic testing (gold standard) 

  • specific gene mutation 

• Muscle Biopsy 

  • absence of or decrease in specific proteins 

DMD medical management

• Genetic therapies 

  • dystrophin gene replacement using virus vectors 

• Corticosteroids (Deflazacort) 

  • improvement in gait and strength, pulmonary function 

• Antifibrotic drugs 

• Creatine/ glutamine 

• anti-inflammatory drugs 

• Sx

  • debate as to efficacy given that is a progressive disease 

  • Management of contractures, spinal fusion (neuromuscular scoli)

DMD presentation

• Muscle weakness: 

  • neck flexors, abdominals, periscapular, and hip extensor groups

    • progression to get generalized weakness w/ progression of the disease 

• Gowers sign →

• Pseudohypertrophy of calf 

  • muscle replaced w/ fatty tissue 

• No limitations in ROM are typically noted before 5 years old 

  • affect the cald and TFL first 

• Increased lordosis and scapular winging may be present 

• Scoliosis develops just before or during adolescence

DMD- other impairments

• contractures 

• postural malalignment- scoliosis 

• impaired respiratory capacity 

• cardiac dysfxn 

• fatigue 

• obesity → inactivity/ decrease in activity 

• Oral motor dysfxn 

• Impaired GI Motility 

• Intellectual impairment (loss of dystrophin in the brain) 

  • attention, learning, speech, intellectual ability 

  • ADHD, OCD, Dyslexia, ASD, Epilepsy

Beckers MD

• Similar to Duchenne as it affects the dystrophin 

  • abnormal form of dystrophin leads to some but limited function of dystrophin

• Occurs predominantly in boys 

• Onset varies from 5-60 y/o 

• survival = mid-late adulthood 

  • mean age of death in the 40’s 

Beckers MD- PT eval 

• medical Hx

• Assistive and adaptive devices, orthotics, protective and supportive devices 

• community and work integration and environmental barriers 

• self-care and home management 

• gat, locomotion, balance 

• integumentary status 

• Muscle performance (hand-held dynamometer) 

• Neuromotor development 

• posture 

• ROM 

• Aerobic capacity and endurance 

• Ventilation/ respiration 

• Family goals and concerns 

muscular dystrophy- Standardized tests for activity

• monitor direction over time 

• Vignos functional rating scale for DMD- not standardized 

DMD- Classification 

• Early

  • Presymptomatic, but late walkers- usually 16 to 18 months 

  • Age 5-7- often Dx at this time 

• Transitional 

  • 8-12 years- late ambulatory 

• Late pr non-ambulatory

  • 12-15 years- early non-ambulatory 

  • > 16 years- non-ambulatory 

DMD Early stage: 5-7 years of age weaknesses

• Weakness 

  • hip extensors 

  • hip adductors

  • hip abductors

  • ankle dorsiflexors

  • abdominals

  • Neck flexors (SCM)

  • Shoulder depressors

  • deltoids

  • triceps

DMD Early stage: 5-7 years of age compensations

• posture

  • increased lordosis 

  • foot/ankle PF, pronation, eversion 

    • contracted in PF

• Gait: “waddling gait

  • lack of heel strike 

  • Increased hip flexion in swing phase to clear foot

  • Increased UE abduction and lateral trunk sway

  • decreased cadence → lacking push-off

• Gowers Sign 

DMD Early Stage: PT Intervention

• Seldom treated before age 3-5 

• Early Tx

  • Family education and support 

  • Obtain baseline data on muscle strength, ROM, pulmonary Fxn

  • Discuss issue of fatigue w/ family and school 

    • Rest periods 

  • Information through local MDA support groups 

  • Encourage typical gross motor play 

DMD Transition stage: 8-12 years of age weakness

• progression of weakness listed under early stages 

• quadriceps- greater gait deterioration

• Peroneals  

DMD Transition stage: 8-12 years of age compensations 

• must get line of gravity simultaneously in front of knee joint and behind hip joint

  • use of anterior pelvic tilt

  • diminished hip extension in stance 

• Base of support widens 

  • decreased balance and tight IT band 

• Increased equinus position 

• see more ankle inversion 

• increased falls- weakness of quads 

DMD Transition stage: 8-12 years of age tightness/ shortening

• IT band 

• Hip flexors 

• Hamstrings 

• Gastroc/ soleus 

• Posterior tibialis 

• Two joint muscles get tight first→ gastroc/ IT band 

DMD Transition stage: 8-12 years of age functional loss of

• ability to rise from the floor 

• stair climbing 

• rising from a chair 

• falling more frequently 

• fatigue 

DMD Transition stage: 8-12 years of age changes in gait and posture

• Maximally compensated gait 

• standing and walking on toes w/ wide BOS and extreme lordosis

• extreme lateral trunk lurch and UE abduction 

• Shoulders back 

• Scoliosis may start to emerge 

  • may become asymmetrical 

  • related to LE asymmetry, posture, contractures 

  • Still flexible → Functional 

• Increases WB through facet joints 

• minimizes Rot./ lateral flexion → help slow down progression of scoliosis 

DMD Transition stage: PT intervention

• Contracture management 

  • not preventable, but can slow down progression 

    • gastroc and TFL

  • Family and child instructed in stretching at least once a day- 10-20 min 

  • night splinting and sleeping prone to stretch hip and knee flexors 

• WC power mobility device 

• Monitor scoliosis 

• Breathing exercises/ games

• Sx: transfers, tenson releases

• Bracing: AFO’s- heavy, may increase falling

• AD

• MDA camp 

DMD Transition stage: to walk or ride

• Continue to walk 

  • prolongs fxnal status 

  • more effective control of LE contractures 

  • Delay or minimize osteoporosis

  • Easier weight control 

  • Improved cardiopulm fitness

  • easier transfers  

• Transition to wheelchair

  • walking is not necessarily functional at this stage

  • Energy expenditure for walking is very high

  • wheelchair provides independence w/o the struggle of ambulation

DMD Late or non-ambulator weakness

• previous list of muscles become profoundly weak

• UE weakness 

  • weakner elbow extension nd forearm supination, wrist and finger extension 

• Neck extensors, hamstrings, posterior tibilais are spared until very late in disease 

DMD Late or non-ambulator compensations (non-ambuatory)

• contralateral trunk leaning for stability to allow improved UE function 

• Leading w/ head using neck extensors to shift weight 

• using mouth to grab fingers and move arm 

• pivoting forearm on elbow to substitute for elbow flexors

• hand under chin to hold up head for eating or talking 

DMD Late or non-ambulatory stage Tightness/ shortening

• accelerated LE contractures 

• beginning development UE contractures

• tightness in elbow flexion and pronation 

• tightness in wrist and finger flexors 

• no significant contractures around shoulder girdle 

DMD Late or non-ambulatory stage functional loss of 

• UE abilities 

• Sitting ability

• Head control

• ADL abilities

DMD Late or non-ambulatory stage Scoliosis

• major complications of the “wheelchair” phase

• Develops more rapidly as ambulation is lost 

• severe enough to compromise pulmonary function, sitting ability, UE function and comfort 

• contributing factors 

  • rapid vertebral growth in teens 

  • loss of protective spinal hyperextension 

• Good posturing 

  • avoid sling or gel cushion w/o firm seat 

  • anterior pelvic tilt to improve trunk extension 

  • Feet flat on foot pedals 

DMD Late or non-ambulatory stage: PT intervention

• Wheelchair and positioning devices

  • manual WC first

  • Motorized WC → possibly Tilt in space ? 

• Scoliosis and contractures 

• Bracing/ AD

• Breath exercises 

• Comfort 

• QOL 

• Caregiver education 

General guidelines for exercise in DMD

• DO

  • submax exercise and strengthening recommended

    • does not hasten progression 

  • If initiated early- focus on abdominals, hip extensors, abductors and knee extensors 

  • Cycling, swimming, walking preferred for early and transitional phases

  • Recommended low intensity exercise 15 min/day 5x per week 

  • Ask about “dark urine” following exercise- Myoglobinuria  

• DONT

  • Over-exertion (max activity) and immobilization are detrimental 

    • night splints are okay 

  • Long periods of rest and immobility should be avoided 

  • Avoid eccentric and submaximal resistive exercises at any stage

    • modify how they go down stairs

    • squats w/o added weight would be OKAY

New in DMD

• UE robotic exoskeleton 

  • wilmington robotic exoskeleton: gravity-reduced mmt via elastic bands to unweight the UE 

  • increased shoulder flexion and abduction, and elbow flexion 

  • increased independence w/ self feeding, item retrieval, use of phone/ tablet, facial grooming 

• Deflaxican (FDA approved in 2016) 

  • found to preserve muscle strength

  • Few side effects (weight gain)

DMD Take home points

• Avoid eccentric and maximal exercise 

• DMD progression is predictable 

• PT intervention includes adaptive equipment, modifications and possible bracing 

• Allow compensations 

• Early stage- family education 

• transitional stage- prolong ambulation and fxning 

• late stage- positioning, breathing, adaptive equipment, QOL

Spinal muscular atrophy- Overview & pathology

• 2nd most common group of fatal recessive diseases (CF is #1)

  • progressive disease

• Incidence: 1/6000-10000 live births

• Inherited autosomal recessive, defect in survival motor neuron (SMN) protein

  • anterior horn cell degeneration 

  • Interruption of the spinal reflex arc →

    • Apoptosis →

    • Weakness (hallmark sign) 

SMA Classification (Type 1) 

• acute onset : 0-4 months 

• unable to sit w/o support 

• life expectancy 1-10 years 

SMA Classification (Type 2) 

• Childhood onset: 6-12 months 

• able to sit unsupported 

• unable to stand or walk unsupported 

SMA Classification (Type 3) 

• more SMN type 2 protein in the body

• Onset: 18 months- 10 years 

• able to stand and walk

• presents like dystrophy 

• Affects LE > UE 

SMA Classification (Type 4) 

• Adult onset 

• Mild weakness

SMA Dx

• Clinical presentation 

  • respiratory/ feeding difficulty 

  • Bell shaped chest 

  • delay or regression in motor skills → esp against gravity 

• Laboratory procedures 

  • EMG

  • Ultrasound 

  • muscle biopsy 

• Confirmed genetic testing

SMA General signs & symptoms

• affects voluntary muscles 

  • involuntary muscles (heart, BV, GI) not affected 

• Weakness in proximal musculature

  • hands remain the strongest throughout progression 

  • first affected muscles: shoulder, hips (esp extensors), quads and periscapular muscles 

  • LE > UE

• Difficulty breathing, sucking, and swallowing 

• delayed or loss of milestones 

• Loss of deep tendon reflexes 

• low tone 

• does not affect sensation or intelligence 

SMA- PT evaluation

• ROM 

• Strength: dynamometer 

• posture 

• airway clearance 

• endurance 

  • 6MWT

  • timed task tests 

• Standardized test

  • PEDI

  • PedsQL

  • CHOP INTEND- SMA type 1, esp for neuromuscular disease

  • Hammersmith functional motor scale- SMA type 2/3

  • SATco 

SMA type 1: presentation

• weak or absent fetal mvmt

• weakness of proximal muscle of neck, trunk, pelvic and shoulder girdle

• Often fatal by 1-21 months

• early respiratory distress

  • abdominal breathing

• Bell shaped chest 

• Resting posture: head rotated to one side, frog leg position, arms flat to surface

• Scoliosis 

• Contractures 

• May be intubated or have a tracheostomy 

SMA type1: presentation

• positioning is key 

• supine: on wedge to improve respiration, use blanket rolls to support UEs and LEs

• Sidelying: to promote midline head position and hands to midline 

• No prone: too much effort to lift head and compromises respiration

• Supported sitting: focus on good spinal alignment to prevent respiratory compromise 

• ROM to prevent contractures 

• Avoid fatigue 

• Encourage active reaching w/ light-weight toys/ rattles 

SMA Type 2: presentation 

• weakness greatest in hip and knee extensors and trunk

• may learn to sit and even stand

• course of the disease varies widely

• median age of death > 10 years 

SMA Type 2: Intervention 

• Short bouts of intervention w/ rest in b/t

• TLSO for trunk control 

• Molded seating/ positioning

• standers/ standing frames

• short therapy sessions to avoid fatigue 

• developmental skills 

• aquatics

• KAFOs for standing or standers 

• WC (power) 

  • CURE SMA  

SMA Type 3 presentation

• Proximal LE weakness

• Postural compensations w/ resulting contractures 

• Increased lumbar lordosis 

• trendelenburg gait 

• sometimes plantar flexion contractures and scoliosis

• minimal to No UE weakness

• May live into adulthood 

SMA Type 3 intervention

• Stretching and ROM program to decreased contractures

• selected strengthening

• powered mobility for longer distances 

• LE bracing as needed 

  • think how much does it weigh 

• AD for walking 

  • Good UE strength 

SMA- Whats new

• In december 2016, the FDA approved nusinersen (Spinraza) for the Tx of all types (1-4) of chromosome 5 SMA in children and adults 

  • In clinical trials, Spinraza was able to improve motor fxn and survival in Pt. w/ infantile-onset SMA compared to untreated Pt. 

  • It was also shown to improve motor ability in children w/ later-onset SMA

  • It may be effective at slowing, stopping, or perhaps reversing SMA symptoms 

• May 2019, FDA approved Zolgensma, the first gene replacement therapy for a neuromuscular disease 

  • one-time intravenous infusion for the Tx of pediatric Pt. younger than 2-years of age w/ SMA w/ bi-allelic mutation in the SMN1 gene

SMA Take home points for SMA

• Type 1- think comfort care, positioning, breathing, avoid prone 

• Type 2- bracing positioning/ posture, powered WC, short exercise sessions, developmental skills 

• Type 3- ambulation needs contractures, strengthening/ ROM, fatigue, powered mobility 

Arthrogryposis multiplex congenita- overview

• Congenital, non-progressive neuromuscular syndrome 

  • characterized by 2+ joint contractures, muscle weakness, and fibrosis 

  • Most severe contractures are at the ankle, knee and hip and are bilateral 

  • Also affects the UE but to a lesser degree 

• Numerous types 

  • most common is Amyoplasia (classic arthrogryposis) 

  • other types include neuromuscular syndrome, congenital anomalies, chromosomal abnormalities, contracture syndromes and distal arthrogryposis 

• Incidence is 1/3000-5000 live births 

Arthrogryposis multiplex congenita- Etiology/ Pathophysiology

• Etiology unclear

  • maternal risk factors include fever during first trimester, viral infection, fetal/maternal vascular compromise

• Occurs during the first trimester 

• Lack of fetal mvmt 

  • Motor weakness immobilizes the fetal joints leading to contracture 

  • possible degeneration of the anterior horn cells 

  • periarticular soft tissue fibrosis 

• If the muscle does not function, the joints lack mvmt causing stiffness and deformity in the fetus 

  • muscles are formed normally, but they are replaced by fibrous and fatty tissue during fetal development 

• Imbalance of muscle strength also causing contracture 

Arthrogryposis multiplex congenita- Dx

• No prenatal lab testing can diagnose AMC 

  • a detailed level 2 ultrasound may be helpful 

• Forms of AMC have been mapped to chromosomes 5,9, and 11

• Most cares occur sporadically 

• Muscles are formed normally, but they are replaced by fibrous and fatty tissue during fetal development 

• If diagnosed in utero, mother can “exercise the baby” through deep breathing, light exercise, and daily caffeine 

Arthrogryposis multiplex congenita- presentation (affected joints) 

• Clinical manifestations vary greatly 

• affected joints 

  • Foot (78-95%)

  • Elbow (35-92%)

  • Shouler (20-92%) 

  • Hip (60-82%)

  • Wrist (43-81%)

  • Knee (41-79%)

Arthrogryposis multiplex congenita- presentation posture “frog like”

• Frog-like

• Hips ER and abduction 

• Knee flexion 

• Equinovarus

• Shoulder IR

• Elbow extension 

• Wrist flexion and ulnar deviation 

Arthrogryposis multiplex congenita- presentation posture “jack-knifed”

• Jack-knifed 

• Hip flexion and dislocation 

• knee extension 

• equinovarus (club feet) 

• Shoulder IR

• Elbow flexion (possible) 

• Wrist flexion and ulnar deviation 

• spinal extension 

Arthrogryposis multiplex congenita- associated characteristics

• Scoliosis

• skim dimpling over joints

• hemangiomas 

• absent or decreased finger creases 

• CHD

• Facial abnormalities 

• respiratory problems 

• abdominal hernias 

• normal intelligence and speech 

Arthrogryposis multiplex congenita- Surgical management 

• clubfoot repair 

• subluxed or dislocated hips are relocated 

• knee flexion or extension contractures when starting to ambulate

  • hamstring or quad lengthenings 

  • distal femoral osteotomy 

• Shoulder- muscle transfers 

• Wrists- fused in functional positions 

• Scoliosis- spinal fusion

• Amputation 

Arthrogryposis multiplex congenita- PT evaluation

• ROM 

• Strength 

• Balance 

• Pain 

• Gross motor development 

• Fxnal mobility 

• Endurance 

• Standardized tests: 6MWT, SFA, PEDI, PDMS-2

Arthrogryposis multiplex congenita- PT intervention general

• Family education 

  • non-progressive but

  • daily stretching, positioning and strengthening will prevent impairments 

• Early intervention program 

• standardized testing - but milestones delayed or skipped 

• AROM/ PROM 

• Muscle strengthening through play 

Arthrogryposis multiplex congenita- PT intervention stretching program

• 3-5 times daily 

• 3-5 reps per set 

• each rep held for at least 30 seconds 

• for each joint involved 

• Splinting may maximize the stretching effect 

• gentle joint mobs 

• teach parents stretching HEP 

Arthrogryposis multiplex congenita- PT intervention Handling/ positioning “frog like” 

• Prone difficult because of extended elbows- use boppy 

• bottom scooting okay 

• keep hips in neutral rotation 

• quadruped may be okay 

• hip and knee extension and neutral hip extension needed for standing. may need Sx

Arthrogryposis multiplex congenita- PT intervention Handling/ positioning “Jack knife” 

• Encourage prone to extended hips

• Bottom scooting okay

• Obtain independent sitting around 15 months

• stand when placed

• ambulation 2nd year

  • may be delayed or not functional due to dislocated hips

Arthrogryposis multiplex congenita- PT intervention splinting  

• knee flexion or extension splinting 

• wrist cock-up splints after 3 months 

• elbow extension or flexion splinting 

• serial splinting/ casting 

  • work closely w/ orthotist and orthopedic surgeon 

• Modify the environment 

Arthrogryposis multiplex congenita- PT intervention functional mobility  

• Functional muscle strength w/in available range 

  • Grade < 3/5 in hip extensors requires bracing above the hips 

  • Grade < 3/5 in knee extension- bracing above the knee

• Problem solving- self care 

• Independent mobility- walker, wheelchair 

• Continue stretching program 

• Splinting as appropriate 

• endurance 

• compensations as needed for fxn 

Arthrogryposis multiplex congenita- take home points  

• Daily stretching is essential

• modified positioning and modifications throughout the lifetime

  • adaptive equipment

• Bracing and splinting

• May miss motor milestones

• May or may not be ambulators depending on contractures/ ROM

• Strengthen w/in available range

Congenital limb deficiencies- overview

• Congenital limb deficiency was defined as the absence or hypoplasia of a long bone, metacarpal, metatarsal, or phalanx of one or more limbs, which was significant enough in appearance to be detected by an examining physician w/in the first 5 days of life 

• excluded from definition were mild shortening of the digits d/t isolated brachydactyly, shortening of digits in skeleta dysplasias, and curvature of digits (clinodactyly)

• 2 to 7 per 10,000 live births 

Congenital limb deficiencies- pathophysiology

• limb buds- end of 4th week gestation 

• identifiable limb segments- end of 8th week gestation 

• Etiology 

  • genetic (sporadic mutation), vascular, amniotic bands, teratogen (present b/t 3rd and 7th week gestation) 

  • Associated w/ other syndromes

  • 32% unknown causes 

Congenital limb deficiencies- Classification (transverse) 

• limb develops normally to a certain level and then stops 

• Described by naming the segment in which the limb terminates and then describing the level w/in the segment beyond which no skeletal elements exist 

• May see limb buds, toes, fingers (distally) 

• Example: Terminal transverse femur

Congenital limb deficiencies- Classification (Longitudinal) 

• Absence of long-axis limb 

• May see normal skeleton distally

• Named by bones affected in proximal to distal sequence 

• state whether each affected bone is totally or partially absent 

• Example: longitudinal tibial total, tarsus partial, ray 1 total 

Congenital limb deficiencies- proximal femoral focal deficiency (PFFD)

• absence or hypoplasia of proximal femur 

• may see foot distally 

• may be bilateral 

Congenital limb deficiencies- brachydactyly

• NOT considered limb deficiency 

• short digits 

• general term that refers to disproportionately short fingers and toes, and forms part of the group of limb malformation characterized by bone dysostosis 

Congenital limb deficiencies- Clinodactyly 

• curvature of a digit → a finger or toe, in the plane of the palm

• most commonly the 5th finger (the little finger) towards the adjacent fourth finger (ring finger)

Congenital limb deficiencies- presentation

• variable, dependent upon cause and location of deficiency 

Congenital limb deficiencies- medical management

• amputation for PFFD

• Amputation of terminal outgrowths 

• Ilizarov- lengthening of long bones over time 

• Rotationplasty → NWB w/ pin rotations 

Congenital limb deficiencies- Rotationplasty

• Used when lacking femur/ bone tumor/ bone cancers 

• Distal portion of the leg is removed and rotated 180 degree and then reattached 

• The ankle joint serves as a knee joint 

  • PF- knee extension 

  • DF- knee flexion 

Congenital limb deficiencies- PT evaluation

• Pain 

• Skin integrity 

• anthropometric measures 

• ROM strength 

• endurance 

• ADLs/ functional mobility 

• development 

• standardized assessment 

Congenital limb deficiencies- PT goals & management

• Teach compensations 

• developmental milestones 

• modifications of toys, equipment, home environment 

• bracing/ splinting 

• gait training/ assistive devices 

• prosthetic management (similar to adults but growth is an issue) 

• monitor for contractures and muscle overuse 

• strengthen as appropriate 

• caregiver education 

Congenital limb deficiencies- Take-home points

• compensations and adaptations are ok in this population 

• family involvement is crucial

• maximize development and fxn 

• consider psychological aspects of appearance 

myelodysplasia/ spina bifida- overview

• defect in any part of the spinal cord 

• incidence: .4-.9/1000 live births 

• prevalence 

  • Hispanic: 4.18/ 1000

  • Non-Hispanic white: 3.37/1000

  • Non-Hispanic African Americans 2.64/1000 

• An estimated 166000 individuals w/ spina bifida live in the US 

• before antibiotics (1928) most children w/ myelomeningocele died of infection 

• Now, it can be Dx early as 18 weeks gestation 

• progressive disorder 

SB Classification- Occulta 

• hidden

• The moby vertebra is open, but the spine is w/in the spinal canal 

• The skin may have lipoma (small benign fatty tumor), some discoloration (birthmark), or a small tuft of hair overlying the spinal defect

• Most patient w/ spina bifida occulta do not know they have it

• there may be tethering of the SC

SB Classification- Cystica or Aperta

• visible or open 

• The bony vertebra is open, and part of the meninges is protruding out of the spinal canal 

• Since the spinal cord is not protruding, there is often normal function 

• some cases of tethering have been reported 

SB Classification- Occulta (hidden)

• mildest- most common 

• one ore more vertebrae are malformed 

SB Classification- closed neural tube defects

• Diverse group of defects marked by malformation of fat, bone, meninges

• Few symptoms or incomplete paralysis w/ bowel/ bladder involvement 

SB Classification- meningocele

• spinal fluid and meninges protrude but no neural elements 

• may or may not be covered by skin 

• few s/s or complete paralysis w/ bowel/ bladder involvement 

SB Classification- Myelomeningocele (MMC)

• most severe 

• spinal cord and neural elements protrude 

• partial/ complete paralysis @ or below spinal opening 

• unable to walk/ sit 

SB Pathophysiology- abnormal neurulation

• typical development: folding of ectoderm on each side of the notochord forms a tube that extends from the hind brain to the second sacral vertebrae 

• myelomeningoceles result from a failure of complete entubulation 

• occurs before day 28 of gestation 

SB Pathophysiology- abnormal canalization

• not well understood

• typical development: distal to S2, groups of cells in the dorsal, central midline of the mesoderm become nerve cells by clumping t/g to form many canals 

• canals ultimately fuse into one tubular structure that joins w/ the distal end of the spinal cord 

• failure of canalization explains the occurrence of skin-covered meningoceles 

• cause unknown 

SB- Etiology

• nutritional deficiencies→ lack of folic acid (600 mb/ day)

• Teratogens→ alcohol, vaporic acid, drug abuse 

• Genetics 

  • often associated w/ chromosomal abnormalities 

  • Celtic regions of UK/Ireland as high as 1/80 historically 

SB- Diagnosis

• maternal serum alpha-fetoprotein (AFP) screening 

• Ultrasound: reliably detects defects by the end of the first trimester 

• amniocentesis 

SB- Perinatal management

• Open fetal repair

• Takes place at 34 weeks of gestation, C-section at 34 weeks (bedrest b/t) 

• Decreased need for a cerebrospinal fluid shunt

• Improvement in Chiari II malformation 

• Greater likelihood to walk without assistive devices 

• Motor function 2 or more levels better than expected 

• Decreased need for shunt/ decreased intellectual disability 

SB- Postnatal management

• Sx performed w/in first few days of life 

  • place the spinal cord and exposed nerves back into the spinal canal

  • cover area w/ muscle and skin flap 

  • Essential for preventing infection 

SB- motor and sensory paralysis 

• motor level → lowest intact functional neuromuscular segment 

  • If classified as L4 motor level: the L4 myotome is intact and everything below is affected

  • Flaccid paralysis, loss of sensation, and absent reflexes

• Sensory level → lowest intact level of sensation @ dermatome 

• 3 presentations 

  • complete lesion 

  • incomplete lesion 

  • skip lesions → skip a few then come back 

SB- International standards for neurological classification of SCI (ISNCSCI)/ ASIA testing 

• child must be at least 4 y/o

• Reliability is low under the age of 10 

• under the age of 4 classification is based on: 

  • Motor: palpation for muscle activation during functional or encouraged active mvmt 

  • Sensory: look for motor response or child reaction to sensory input 

SB- presentation: musculoskeletal

• Scoliosis 

• hip dislocation/ subluxation 

• genu valgum 

• equinovarus 

• calcaneal valgus 

• torsional changes: anteversion, tibial torsion (internal or external) 

• Crouched standing posture 

• osteoporosis