Neuromuscular disorders Flashcards

Marfan's syndrome Arthrogyrposis Larsen's syndrome Freidreich's ataxia Charcot- marie Tooth Myelodysplasia ( spina bifidia) (82 cards)

1
Q

What is Marfan’s syndrome?

A
  • A connective tissue disorder associated with
    • long limbs
    • Skeletal Abnormalities
    • cardiovascular abnormalities
    • ocular abnormalities
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2
Q

What is the epidemiology of Marfan’s Syndrome?

A
  • incidence 1 in 10,000
  • no gender predilection
  • genetics
    • Autosomal Dominant
    • mutation in fibrillin-1 (FBN-1)= 90% of pts
    • location on chromosome 15 (locus CH 15q21)
    • multiple mutations identified
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3
Q

What is fibrillin?

A
  • A gylcoprotein common in many tissues
  • which is a structural component of elastin- containing microfibrils
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4
Q

Name any associated conditions?

A
  • Arachnodactyly
  • Scoliosis (50%)
  • Protrusio Acetabuli (15-25%)- centre edge angle >40o, medialisation of acetabulum past ilioschial line
  • ligamentous laxity
  • recurrent dislocations- patella, shoulder, fingers
  • Pes planovalgus

​non orthopaedic

  • Cardiac abnormalities
    • ​aortic root dilation
    • possible aortic dissection in future
    • mitral valve prolapse
    • superior lens dislocation (60%)
    • pectum excavatum
    • spontaneous pneumothoraces
    • dural ectasia (>60%)
    • meningocele
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5
Q

What is the signs and symptoms of Marfan’s syndrome?

A
  • ***Scoliosis first to be diagnosed
  • hx of ankle sprains

symptoms

  • asymptomatic in most cases

Signs

  • arm span > height ratio 1.05 ratio= Dolichostenomelia
  • arachnodactyly - long, thin toes and fingers
  • ligamentous hyperlaxity
  • scoliosis
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6
Q

What imaging is useful in Marfan’s syndrome?

A
  • Xrays
    • scoliosis series of spine
    • see scoliosis and kyphosis
  • MRI
    • prior to surgery
    • look for dural ectasia- widening ballooning of dural sac around spinal cord
    • these may cause headaches, leg pain or perineal pain
  • Cardiac evaluation prior to surgery
    • cardiac consultation & Echo
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7
Q

What is the tx of marfan’s Scoliosis?

A
  • Non operative
    • Bracing
    • early tx of mild curve
    • ineffective in most cases
  • Operative
    • ASF+ PSF w instrumentation
      • rapidly progressive curve in skeletally immature patient
      • large curve in skeletally mature pts
      • higher complication rate then idiopathic scoliosis
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8
Q

What is the tx of Marfan’s Protrusio?

A
  • Observe until severe symptoms develop
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9
Q

What is the tx of Marfan’s Joint laxity

A
  • Non operative
    • Observation and orthotics as indicated
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10
Q

What is the post op complications of scoliosis surgery for Marfan’s syndrome?

A
  • 10-20% incidence following scoliosis surgery
  • infection
  • failure of instrumentation
  • pseudoarthrosis
  • decompensation of curve
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11
Q

What is this?

A
  • Arthrogyroposis
  • A congential nonprogressive disorder involving Multiple Rigid Joints ( usually symmetrical) leading to severe limitation in motion
  • from the greek-curving of joints/ hook joints
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12
Q

What is the epidemiology and mechanism of Arthrogyroposis?

A
  • 1 in 3,000 live births
  • symmetry of contractures due to immobilisation in utero
    • neurogenic 90%
    • Myopathic 10%
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13
Q

What is the pathophysiology of Arthrogyroposis?

A
  • Exact mechanism unknown
  • Some mothers have serum antibodies inhibiting fetal acetylcholine-> a decreased no of anterior horn cells
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14
Q

Name associated condition of Arthrogyroposis?

A
  • Hip subluxation and dislocation
  • knee contractures
  • clubfoot
  • vertical talus
  • neuromuscular C shaped scoliosis- 33%
  • Fractures 25%
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15
Q

What is the prognosis of Arthrogyroposis?

A
  • 25% Non ambulatory
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16
Q

Describe the classification of Arthrogyroposis?

A
  • Type 1 - single localised deformity - e.g forearm pronated
  • Type 2- full expression
    • absent shoulder muscles, thin limbs, elbows extended, wrists flexed ulnarly deviated, intrinsic plus deformity of hands, adducted thumbs, no flexion creases
  • Type 3- full expression ( like type 2) with polydactylyl and involvement if non - neuromuscular systems
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17
Q

What are the signs of Arthrogyroposis?

A
  • Shoulders adducted and internally rotated- absent of shoulder muscles
  • elbows extended - no flexion crease
  • wristed flexed and ulnarly deviated
  • hands with intrinsics plus deformity
  • thumb adducted
  • hips flexed, abducted and externally rotated
    • subluxation/teratologic dislocations common
  • knees extended- most time flexed
  • clubfeet
  • normal intelligence, facies, sensation and viscers
  • range of motion- V limited involving all 4 extremities
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18
Q

What studies are preformed on a child with Arthrogyroposis?

A
  • At 3-4 months old
  • neurologial studies
  • enzyme tests
  • muscle biopsies
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19
Q

Describe the tx if upper limb deformities in Arthrogyroposis?

A
  • Goals
  • to allow optimial function to increase ability to drive an electric chair and use computer assisted devices
  • one elbow in extension for positioning & perinanal care, one elbow in flexion for feeding

Non operartive

  • Passive manipulation and serial casting
    • first line
  • Operative
    • Soft tissue releases, tendon transfers and osteotomies
    • consider after age 4 to allow independent eating
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20
Q

Describe the surgical tx of upper limb deformities in Arthrogyroposis?

A
  • Elbow extension
    • tx = triceps V-Y lengthening and posterior capsulotomy at 1.5-3 years
  • Wrist palmar flexion & ulnar deviation
    • tx=Flexor carpi ulnaris release, lengthening and transfer to wrist extensors, dorsal carpal closing
  • Thumb in palm contractures/syndactyly
    • Z plasty syndactylyl release
  • Finger deformity
    • PIP arthrodesis
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21
Q

Decribe the tx of hip subluxation and dislocation in Arthrogyroposis?

A
  • 68-80% pts present with hip subluxation/dislocation with Arthrogyroposis

Non operative

  • Observation alone
    • bilateral dislocations- contraversial
    • unilateral dislocation in older children
    • Pavlik Harness is CI

​​Surgical

  • Closed reduction
    • rarely successful
  • Medial open reduction & possible femoral shortening
    • ​for unilateral dislocations
    • may -> worse function if leads to hip flexion contracture because fo fixed flexion deformities worsen pts gait
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22
Q

Describe the tx of knee contractures in Arthrogyroposis?

A

Operative

  • Soft tissue releases- especially hamstrings
    • for flexion contracture >30o
    • best preformed early 6-9 months old
    • perform before hip reduction to assist maintainence of reduction
  • Femoral shortening thru guided growth (epiphysiodesis)
    • useful in conjunction with osteotomies
    • may not effectively correct chronic poor quads function
  • Supracondylar femoral osteotomy
    • may be needed to correct residual deformity at skeletal maturity
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23
Q

Describe the tx of clubfoot in Arthrogyroposis?

A
  • Non operative
    • Ponsetti casting
  • operative
    • soft tissue release
      • first line in rigid clubfoot
      • failed Ponsetti casting more flexible types
    • Talectomy vs triple arthrodesis
      • failed soft tissue release
      • triple arthrodesis in adolsecents
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24
Q

Describe the tx of vertical talus in Arthrogyroposis?

A
  • Operative
    • soft tissue release
      • lengthened of peroneals, achilles tendon
        • first line
    • talectomy
      • if deformities recur despite soft tissue release
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25
What is Larsen's syndrome?
* **A rare genetic disorder** with characteristics findings of * **Ligamentous laxity** * **abnormal facial features** * **multiple joint dislocations** * dislocations include * Hips * Knees - usually bilateral * Shoulders * elbows-Radial head
26
Can you describe the epidemiology of larsen syndrome?
* 1 in 100,00 births * Inhereitance pattern both * **Autosomal dominant ** * **​**Mutation in gene coding **FILAMIN B** * **Autosomal recessive** * Linked to **Carbohydrate Sulfotransferase 3 deficiency**
27
What are the associated conditions of Larsen syndrome?
* **Hand deformities** * **Scoliosis** * **Club feet** * **Cervical Kyphosis** * may present extreme weakness 2ary to myelopathy * caused by **HYPOPLASIA of cervical vertebra**
28
What are the signs and symptoms of Larsen's syndrome?
* Pts are normal intelligence Signs * Hypotonis * uncommon but maybe due to cervcial compression * Abnormal facial features * **flattened nasal bridge** * Hypertelorism * prominent forehead * Hands * Long cylindrical fingers that do not taper * wode distal phalanx at thumb * Elbows * bilateral radial head dislocations * Knees * Bilateral knee dislocations * Foot * Equinovarus * Equinovalgus * **Clubfeet**
29
What imaging is required in Larsen's syndrome?
* Xrays * **AP and lateral C spine** * during 1st yr of life * **Ap and lateral of hips** * US if less than 3/12 * see **hypoplasia of vertebra** * **cervical kyphosis w subluxation** * **hip dislocation** * **​MRI** * **​Cervical kyphosis** * **myelopathy**
30
How is cervical kyphosis tx in larsen's syndrome?
* Operative * **Posterior cervical fusion** * for pt with _significant kyphosis but no neuro_ * **during first 18 months of life to prevent neurological deterioration** * **​Anterior/posterior cervical decompression & fusion** * ​for Cervical kyphosis with neurology
31
What is the tx for hip dislocation in Larsen's syndrome?
* Non operative * **Closed reduction under anaesthesia** * rarely successful * Operative * **Open reduction of hip dislocation** * for failed closed reduction * Decreased ROM 2ary to contractures * unilateral hip dislocation * bilat hip dislocation- controversial , perform early & only once
32
What is the tx of knee dislocations for Larsen's syndrome?
* _non operative_ * **Closed reduction and casting** * rarely successful * Operative * **Open reduction w femoral shrotening and collateral ligament excision** * for those that remain unsatble after closed reduction
33
What is Fredreich's ataxia?
* **Most common form of spinocerebellar degenerative disease** * characterised by **lesions** in the * **Dorsal Root Ganglia** * **Corticospinal tracts** * **Dentate nuclei in the cerebellum** * **sensory peripheral nerves**
34
What is the epidemiology of fredrich's ataxia?
* 1 in 50,000 births * onset usually between **7-25 years** * age on onset related to no of GAA repeats * **Autosomal Recessive** * **Repeat mutation-\> lack of Frataxin gene** * **Mutation is GAA repeat at 9q13**
35
What is Fraxatin?
* A **mitochondrial protein involved in Iron metabolism and oxidative stress** * It is a **iron binding protein** * **Low levels-\> increased iron levels in mitochondria\_\> damage to proteins**
36
Name associated conditions of fredrich's ataxia?
* **Pes Cavovarus foot** * **Scoliosis** * predictors of progression * onset of disease \<10 yrs * onset scoliosis \<15 yrs * **Cardiomyopathy** * cadiology evaluation b4 surgery * antioxidants ( Coenzyme Q) = to decrease rate of cadiac deterioration but have no effect on ataxia
37
What is the prognosis of fredrich's ataxia
* Usually wheelchair bound by 30yrs * usually died by 50 yrs from **CARDIOMYOPATHY, pneumonia, aspiration**
38
What are the signs and symptoms of fredrich's ataxia?
* Symptoms * Ataxia * **Staggering wide based gait**- spineocerebellar * Signs * Classic triad * **Ataxia** * **Areflexia** * **Positive plantar response** * **Weakness** * **Nystagmus** * **Cavovarus foot** * V high arch * Rigid deformity * assoc claw toes * **Scoliosis**
39
What imaging is useful in fredrich's ataxia?
* Standing scoliosis series * AP and lateral of foot pes cavovarus present
40
What do EMG studies show in pts with fredrich's ataxia?
* Show defects in motor and sensory with an increase in polyphasic potentials * nerve conduction velocities aer decreased in upper extremities
41
What is the tx of cavovarus foot in fredrich's ataxia?
* No operative * Observation * only in non ambulatory pts * deformity is rigid and resistant to bracing * Operative * **Plantar release, transfers +/- Metatarsal and calcaneal osteotomy** * early disease in ambulatory pts * **Triple arthrodesis** * late disease nonambulatory pts
42
What is the tx of scoliosis in fredrich's ataxia?
* Non operative * **Observation** * for **curves \<40 degrees** without predictors of progression * Operative * **PSF and instrumentation** * **Curves \>60 degrees** * rapid progression with positive predictors pf progression * usually not needs to be extended to pelvis
43
What is charot marie tooth?
* A **hereditary motor sensory neuropathy** * **a demyelination disorder of the PNS** * 2 forms resulting in * **muscle weakness and sensory changes** * **_Autosomal Dominant_- most common** * ​also autosomal recessive * X linked * **​Mutation** * **_​Duplications on chromosome 17_** * codes for **peripheral myelin protein 22 ( PMP22)-** gene mutations seen on PCR analysis * X linked Connexin 32
44
What is the epidemiology of charot marie tooth?
* **1 per 2,500** * **Most common inherited neurological disease**
45
What is the pathophysiology of charcot marie tooth?
* **Combination of motor and sensory disturbances as a result of nerve damage** * _Motor_ \> than sensory * affected muscle become **WEAK=** **TAP BI** * **Tibialis anterior** * **Peroneus Brevis** * **Intrinsics hand /foot**
46
What are the orthopaedic manifestations of Charcot marie tooth?
* **Pes cavus** * **Hammer toes** * Hip dysplasia * Scoliosis
47
Describe the 2 type of charcot marie tooth?
* **_Type 1 _** * A **demyelinating condition that slows nerve conduction velocity** * **Autosomal Dominant** * Onset in **1st/2nd decade** of life * most commonly-\> **Cavus foot** * **​​Type 2** * **​Direct axonal _death by Wallerian degeneration_** * **​**Usually **less disabled** cf 1 * Onset **2nd decade** of life * often-\> **FLACCID foot**
48
What are the symptoms & signs of charcot marie tooth?
* Symptoms * Lateral foot pain * snesory deficits * Clumsiness * Frequent ankle sprains * difficulty climbing stairs * Signs * **Rigid Cavovarus Foot** ( similar ro Freidreich's ataxia) **w hammer toes/ clawing toes** * **atrophied EDB/EHB** * **Calf atrophy** * **weak Dorsiflexion & eversion** = weak tib anterior and peroneals - drop foot during swing phase * lower limb **Areflexia** * **Coleman block test** * ​placed under lateral aspect of foot tests **flexibility of hindfoot** * **rigid hindfoot won't correct into neutral** * **​Upper limbs= Intrinsic wasting of hand**
49
What do EMG studies show in charcot marie tooth?
* Low nerve conduction velocities with **prolonged distal latencies** are noted of peroneal, ulnar and median nerves
50
Describe the cavus foot deformity in charcot marie tooth?
* **Plantar flexed 1st ray**= _inital deformity- weak tib anterior over powered by peroneus longus-acts to plantarflex 1st Mt, tils hindfoot into varus_ * **Peroneus longus normal overpowers weak Tibialis anterior=\> Cavus foot PL\>TA** * **Tibialis posterior normal overpowers weak Peroneus Brevis=\> Varus and adduction forefoot TP\>PB** *
51
What is the tx of charcot marie tooth cavovarus foot?
* Non operative * **Stretching, strengthening and orthotics** * intial mx of young children * mobilisation and strengthening Tib Ant and peroneus Brevis * Orthotics * accommodative inserts * in flexible orthotics should post **lateral forefoot and lateral heel** * **​​​Surgery** * **​Plantar fascia release, Tib post or peroneus longus transfer +/- TAL , +/- 1St Metatarsal Dorsiflexion osteotomy** * for _flexible hindfoot cavus deformity_( Ncoleman block) * surgery when symptomatic or muscle weakness-\> contracture * Post tibialis transfer dorsum of foot improve foot drop * Peroneus longus transfer to PB * **Calcaneal valgus producing osteotomy** * for _RIGID Hindfoot_ * combined with above soft tissue releases + 1st MT osteotomy * **Triple arthrodesis** * for Severe Rigid Deformities * **1st MT osteotomy and transfer EHL to neck 1st MT** * if hallux clawing combined with cavus foot
52
How does clawing occur in charcot marie tooth feet?
* Ankle dorsiflexion weakness may result in recruitment of toe extensors for assistance * In settiing of intrinsic muscle weakness, increased toe extensor activity-\> claw toe deformity
53
What is the tx of claw toes in charcot marie tooth?
* Operative * Jones procedure * Symptomatic claw toe deformity * transfer of extensor of great and lesser toes thru bone to into metatarsal neck * goal is to increase contributors to ankle dorsiflexion and decrease clawing in order to relieve pain on the dorsum of the toes
54
What are the characteristics of scoliosis in a pt with charcot marie tooth?
* **Left thoracic and kyphotic curve**
55
What is the tx of scoliosis in CMT?
* Non operative * **Bracing- rarely effective** **​Surgery** * **Fusion and instrumentation** * ​for progressive deformity
56
What is myelodysplasia?
* A group of congential abnormalities caused by failiure of spinal cord to completely close
57
What is the epidemiology of myelodysplasia?
* **incidence 0.1-0.2%** * risk factors * **Folate deficiency** * supplementation decrease risk by 70% * Maternal Hyperthermia * Maternal diabetes * Valproic acid * **up to 10%** have chromosomal abnormalities * trisome 13 or 18, triploid
58
Name associated orthopaedic conditions of myelodysplasia?
* pathological fractures * scoliosis * Kyphosis * Hip dysplasia- contracture/dislocations * Tibial torsion * knee contractures * Foot deformities
59
What neurological manifestation of myselodysplasia exist?
* **Type 2 Arnold-Chairi malformations** * most commonly associated congential abnormality * Hydrocephalus * Tethered cord
60
What is the prognosis of myelodysplasia?
* Depends on level of spinal segment involved * untx infants mortality 90-100% * Ability to ambulate * L3 or above - conined to wheelchair * L5 pt good prognosis for independence
61
Can you describe one manifestation of myelosdysplasia?
* IgE allergy to Latex- present in 20-70% cases
62
What is the classification of myelodysplasia?
* **Spina bifidia occulta** * defect in vertebral arch w confined cords and meninges * **Meningocele** * protruding sac _without neural elements_ * **Myelomeningocele** * protruding sac _with neural elements_ * **Rachischisis** * _neural elements exposed with no covering_
63
What is the function al classification of myelodysplasia?
L2- non ambulatory L3- * marginal household ambulator * risk hip dislocation * hip flexion- iliopsoas ( lumbar plexus/femoral n) * hip abduction (obturator n) L4 * household ambulator- key level as quads can work * Knee extension- quads- femoral n * ankle dorsiflexion/inversion-tibialis ant-deep peroneal n L5 * Community ambulators * Toe dorsiflexion- EHL-deep peroneal * Hip extension- deep peroneal n * Hip abduction- glut med & min- sup gluteal n S1 * ambulators * foot plantarlfexion- gastrosoleus- tibial n S2 * ambulators * toe plantar flexion-FHL - tibial n S3/4 * normal bladder and bowel
64
What labs are useful in myelodysplasia?
* alpha-fetaphrotein elevated in 75% children w spina bifida
65
What is the epidemiology of pathological fx in myelodysplasia?
* fx of l**ong bones common** due to **Osteopenia** * **freq increases with higher level of the defect** * common in hip and knee in children aged 3-7yrs * fx often confused w * infection * osteomyelitis * cellulitis
66
What is the tx of path fx in myelodysplasia?
* Short period of immobilisation * if fx in good alignment * avoid long-term casting
67
Describe the epidemiology of scolioisis in myelodysplasia?
* May result from * ***muscle imbalance*** (neurogenic) or * ***Congential malformation*** ( hemivetebra) * **Defined as curve \>20o** * Higher the functional level the \> incidence of scoliosis * **100% scoliosis rate defects in thoracic levels** * consider **cord tethering** in rpaid progressive deformities
68
What is the tx of myelodysplasia scoliosis?
* Non operative- Bracing not effective * Surgery * ASF & PSF with Pelvix fixation * for progressive curve, most cases * **ASF required due to dysplastic posterior elements that may impair posterior fusion** * **​**complications * **High pseudoarthrosis rate** * **high incidence of infection 15-25%** * due to poor soft tissue coverage of post spine
69
What is the epidemiology of congential kyphosis in myelodysplasia?
* Present in **10-15%** with myelodysplasia * usually **congential & progressive** * **Gibbus deformity** may cause recurrent skin breakdown due ot pressure point when sitting
70
What is the tx of congential kyphosis with myelodysplasia?
* Operative * Kyphectomy w fusion and posterior instrumentation * for progressive deformity * sheck shunt function prior to kyphectomy * shunt failure during surgery may -\> death
71
What level is hip dislocation common in myelodysplasia and why?
* L3 * Unopposed hip flexion and adduction * L4 hip abduction
72
What is the tx of hip abduction contracture in myelodysplasia?
* it causes pelvic obliquity and scoliosis * ***proximal division of fascia lata and distal iliotibial band release*** * for contractures interfering with sitting/bracing
73
What is the tx for hip flexor contractures?
* common in thoracic and lumbar defects * for contractures \>40o * surgery * **anterior hip release with tenotomy of iliopoas, sartorius, rectus femoris, tensor fascia lata**
74
How are weak quads tx in myelodysplasia pts?
* Common affecting children with myelodysplasia * tx= **Knee-ankle- foot orthotic **
75
Tx of flexion contracture in myelodsyplasia?
* not as important to tx in wheelchair bound pts * hamstring lengthening + post capsulomtomy * \>20o of knee flexion contracture * Supracondylar extension osteotomy * older pts * those failed soft tissue proceedures
76
Tx of knee extension contracture?
* Less common than flexion contracture * tx with serial casting * for extension contracture limiting ambulation/sitting * goal is to reach 90o of flexion
77
What is the tx of tibial torsion in myelodysplasia?
* For children \<5 years * **Observation and orthotics** * For children \>5 yrs * **Distal tibial derotational osteotomy**
78
What is the epidemiology of foot and ankle deformities in myelodysplasia?
* v common * 60-90% incidence * due to high incidence of lower root involvment
79
Can you describe the different types of foot abnormalities and consx tx?
* L1/2= talipes equinovarus = HKAFO * L3= talipes equinovarus= KAFO * L4= Cavo varus= AFO * L5= Calcaneovalgus= AFO * S1= foot deformity= shoes
80
What are the feature of clubfoot in a pt with myelodysplasia?
* 30% incidence in myelodysplasia * **Very rigid** * **insensate foot-** different to idopathic clubfoot
81
What is the tx of clubfeet in myelodysplasia?
* serial casting * high complication rate * posteromedial lateral release * for failure of serial casting * perform when child is 12-18 months
82
What is the tx of dorsiflexion deformity?
* seen in L5 or sacral level patients * unopposed tibialis anterior causes dorsiflexion deformity * tx is posterior transfer of tibialis anterior tendon * for those who can't achieve neutral foot with bracing