Syndromes of Orthopaedic Importance
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Transcript Syndromes of Orthopaedic Importance
Syndromes of Orthopaedic
Importance
Meghan Imrie, MD
Core Course Curriculum
January 27, 2016
Syndromes overview
“orthopaedic importance”
– What ABOS/AAOS/POSNA expects you to
know
– What the patient’s parent in peds clinic
that day wants you to know
– What you actually need to know for
practice
Syndromes Overview
Looked through OITE
from 2005-2010
Ordered the syndromes
by frequency of testing
during that time
NOT complete review of
syndromes
“knee jerk” approach what you need to know
for testing
Syndromes overview
A few practical tips
– Take close family history
– Make an excuse to leave
the room and consult
book or internet
– Re-evaluate patient for
further features learned
from above
– If any question, call or
refer to genetics
Syndromes overview
– Prader-Willi
– BeckwithWiedemann
– Ehler’s Danlos
– Gaucher’s
– Osteopetrosis
– Duchenne’s MD
Based on 20052010 OITEs:
– Osteogenesis
imperfecta
– Neurofibromatosis
– Charcot Marie Tooth
– Arthrogryposis
– Myelomeningocele
– Marfan’s
– Down’s
Will also discuss
– MPSs
– Loeys-Dietz
– Rett’s
Osteogenesis Imperfecta
Technically, a
metabolic/endocrine bone
disease
Genetic disorder of
connective tissue leading
to increased bone fragility
Wide clinical variation
>90% have identifiable,
genetically determined
qualitative and/or
quantitative defect in type I
collagen
– Skin test vs DNA blood test
Still, clinical diagnosis
Osteogenesis Imperfecta
Pathophysiology
– (forgive the simplification, Lane!)
– Type I collagen
• major structural connective tissue protein of skeletal
system
• Composed of 3 strands of collagen protein
– 2 alpha 1 strands and 1 alpha 2 strand
• COL1A1 encodes pro-alpha 1; COL1A2 encodes proalpha 2
– Quantitative defect: often heterozygous with one
copy not producing any
– Qualitative defect: error in substitution or deletion
leading to abnormal, less effectual collagen
Osteogenesis Imperfecta
Wide clinical variation
Non-accidental trauma vs fracture from mild
OI
– Difficult distinction if no family history, blue
sclerae, etc
– Involve CPS if any question
With increased genetic knowledge,
classification increasingly difficult/muddled
Some thought to simplified phenotypic
classification: mild, moderate, severe, lethal
Sillence classification
– Most commonly used
Osteogenesis Imperfecta
Type
Inheritance
Sclerae
Features
IA, IB
AD (quant defect in
COL1A1)
Blue
Most common,
generally least
affected; hearing loss;
1A - no
dentinogenesis
imperfecta; 1B - + DI
II
Traditionally, thought
AR; likely
spontaneous mutation
(severe, qualitative)
Blue
Lethal perinatally or
early in infancy
III
AR (qual and quant
changes)
Normal (though may
be bluish at birth)
Severe bone fragility,
progressive deformity,
short stature (most
severe type of those
that live)
IVA, IVB
AD (qual and quant)
Normal (though may
be bluish at birth)
Variable severity,
often moderate
deformity; IVA, no DI;
IVB, +DI
Osteogenesis Imperfecta
General treatment principles
– Bones heal fairly predictably, but do not remodel
reliably
• Our usual “as long as they are in the same room” kid
rules therefore don’t always apply
• Under age 2, can usually treat more or less regularly
– For minimally displaced,angulated fractures,
immobilize for as short a duration as possible
• Until child no longer symptomatic
• To prevent further osteopenia/fracture risk
– Don’t use plates
• Intramedullary devices best
– Rush rods, telescoping rods
Osteogenesis Imperfecta
Sofield osteotomies
–
–
–
–
For deformed long bones
Indications fairly varied
“shish-kebob” osteotomy
Stabilize with rush rod or telescoping rod (BaileyDubow, Fassier-Duval)
Scoliosis
– Not uncommon
– Bracing not usually used due to risk of rib
deformity
– Challenging surgically
– Usually for curves >50 or 60 degrees
Osteogenesis Imperfecta - Sofield
osteotomy
Osteogenesis Imperfecta - Sofield
osteotomy
Osteogenesis Imperfecta - Sofield
osteotomy
Osteogenesis Imperfecta - Sofield
osteotomy
OI - possibly tested material
Basilar
impression/invagination
– Due to soft bone of foramen
magnum/microfractures of
skull base
– Leads to direct brainstem
compression
– Most common in type IVB
– Sxs: headache, dysarthria,
dysphagia, spasticity,
increasing contractures
– Plain films not very helpful
• Need 3-D imaging (MRI
probably best)
– Rx: often, anterior
decompression/PSF
(neurosurg)
Bisphosphonate use in OI
– Depending on area of
practice, still controversial
– IV pamidronate currently
“gold standard”
• Numerous studies show
increase in BMD by DEXA
(?clinical implication?)
• Some studies report
–
–
–
–
Decreased fxs
Decreased pain
Better mobility
Increased height
– Placebo trial vs po
alendronate: no change in fx
rate
– Bottom (biased) line: don’t
forget the half-life of these
meds…
OI - summary
“brittle bone” disease
– Due to quantitative and/or qualitative defects in type I
collagen
– COL1A1 and COL1A2 culprits
– Varied clinical spectrum
• Mild OI and NAT can be difficult to distinguish
– Olecranon fracture in adolescent on OITE = probably has OI
– Usual peds fracture principles don’t necessarily apply
• Remodeling unpredictable
• Don’t plate
– Sofield osteotomy work horse for deformities
– Be on look out for basilar invagination (especially in adults)
– Bisphosphonates may be tested: pamidronate gold standard,
increase DEXA definitely, probably reduce fracture rate and
pain
• But we don’t currently recommend them…
Syndromes overview
–
–
–
–
–
–
Based on 20052010 OITEs:
– Osteogenesis
imperfecta
– Neurofibromatosis
– Charcot Marie Tooth
– Arthrogryposis
– Myelomeningocele
– Marfan’s
– Down’s
Prader-Willi
Beckwith-Wiedemann
Ehler’s Danlos
Gaucher’s
Osteopetrosis
Duchenne’s MD
Will also discuss
– MPSs
– Loeys-Dietz
– Rett’s
Neurofibromatosis
Hereditary, AD, hamartomatous disorder affecting:
–
–
–
–
–
–
Central nervous system
Peripheral nervous system
Skeleton
Skin
Deeper soft tissues
50% spontaneous mutation
Two types:
– NF-1: aka von Recklinghausen’s disease
• Defect on chromosome 17
• NF-1 gene encodes neurofibromin protein
– Tumor suppressor gene --> key protein in cell growth and differentiation
• Peripheral NF
– NF-2: bilateral acoustic NF
• Defect on chromosome 22
• Central NF
• Rare orthopaedic manifestations
Neurofibromatosis
NIH diagnostic criteria for NF 1 = need >2
– More than six café au lait spots, at least 15
mm in greatest diameter in adults and 5
mm in children
– Two or more neurofibromas of any type or
one plexiform neurofibroma
– Freckling in the axillae or inguinal regions
(Crowe's sign)
– Optic glioma
– Two or more Lisch nodules (iris
hamartomas) = pathognomonic
– A distinctive bone lesion, such as sphenoid
dysplasia or thinning of the cortex of a long
bone, with or without pseudarthrosis
– A first-degree relative (parent, sibling, or
offspring) with neurofibromatosis type 1 by
these criteria
Neurofibromatosis
MSK manifestations
– Less than 10% of NF
1 patients req ortho
mgmt
– Tibial bowing and
pseudarthrosis
– Scoliosis
– Hemihypertrophy
– Other sites of
“dumb” bone
• forearm
Neurofibromatosis
Tibial issues
– AnteroLateral bowing
• AL = café Au Lait spots (don’t
laugh, my brain is small)
– Management
• Try to prevent fracture
• Clamshell orthosis
• Do not operate if not broken!
– If it breaks
• No bueno :(
• Hope you like the family…
• Some peds ortho MDs using
BMP in this situation
• When all else fails, Symes
Neurofibromatosis
Scoliosis - most common MSK
– Rates 10-60% of NF pts
– Dystrophic vs non-dystrophic
• Important distinction as natural history very different
– Dystrophic
• Characterized by:
–
–
–
–
–
Short, sharp curve
Vertebral scalloping
Enlarged foramina
Pencilling of ribs (> 3, 87% risk of progression)
Kyphotic
• Non-op (ie brace) rx not effective
• Get an MRI pre-op
• A/PSF recommended due to high pseudoarthrosis
rate with posterior only
– Non-dystrophic
• Behaves like IS
• But can switch to dystrophic type
Neurofibromatosis
Hemihypertrophy
– Rare
– Debulking unsatisfactory
– Try epiphysiodesis for
LLD
Other areas of “dumb”
bone
– Forearm
– Has been tested on OITE
(on diagnosis, not on
treatment)
Neurofibromatosis - summary
AD disease of CNS, PNS, skin, skeleton
– Café au lait spots: Coast of California
NF 1 (chromosome 17, neurofibromin protein)
has MSK manifestations
Most common genetic disorder caused by
mutation in single gene
Dumb bone problems
– Anterolateral tibial bowing: prevent fracture, don’t
do osteotomy!
– Scoliosis: dystrophic curves worse, need MRI and
A/PSF
– Dumb bone can be anywhere
• Forearm seems favored by OITE
Syndromes overview
–
–
–
–
–
–
Based on 20052010 OITEs:
– Osteogenesis
imperfecta
– Neurofibromatosis
– Charcot Marie Tooth
– Arthrogryposis
– Myelomeningocele
– Marfan’s
– Down’s
Prader-Willi
Beckwith-Wiedemann
Ehler’s Danlos
Gaucher’s
Osteopetrosis
Duchenne’s MD
Will also discuss
– MPSs
– Loeys-Dietz
– Rett’s
Charcot Marie Tooth Disease
One of hereditary motor sensory neuropathies (HMSN)
Motor sensory demyelinating or axonal neuropathy
– But motor much more involved than sensory
2 main types with two more recent forms identified
– CMT 1:
• manifests earlier
• AD
• More common
– CMT 2:
• manifests in 3rd decade
• AD or AR
• DTRs preserved
– CMTX:
• Second most common form
• X-linked dominant
– Orthopaedic manifestations similar
Charcot Marie Tooth
Diagnosis confirmed by DNA testing
Numerous genetic abnormalities
– CMT 1: duplication in chr 17, coding for
peripheral myelin protein 22 (PMP 22)
– CMT X (x-linked CMT): mutations in
connexin32 gene
Little correlation between genotype and
phenotype
Charcot Marie Tooth
Orthopaedic
manifestations:
– Feet
• Cavovarus
– Hip
• Late dysplasia
– Spine
• Scoliosis (with kyphosis)
– Hand
• Intrinsic weakness with
clawing
Charcot Marie Tooth
Cavovarus foot
– From various muscle
imbalances
• Intrinsic muscle wasting -> clawing of toes,
contracture of plantar
fascia
• Anterior tib and peroneus
brevis weaken before
peroneus longus and
posterior tib --> cavovarus
Charcot Marie Tooth - foot
Peroneus longus +
posterior tib >
peroneus brevis +
anterior tib
– Plantarflexion of first
ray -->
– Heel varus
– Initially flexible
– Then becomes fixed
Charcot Marie Tooth - foot
Coleman block test
– Tests flexibility of hind
foot
– Allows first ray to drop
down
If hindfoot corrects to
valgus
– Soft tissue +/- first ray
osteotomy only
– Peroneal longus transfer
to brevis, post tib to
dorsum of foot, plantar
fascia release
If hindfoot doesn’t
correct
– Have to do calcaneal
osteotomy or fusion
Charcot Marie Tooth - summary
Diagnosis confirmed with DNA test
– CMT 1: chr 17, PMP 22
– CMT X: x linked, connexin
Ortho manifestations
– Feet
• Cavovarus since peroneus longus stays stronger longer
than anterior tib
• If flexible (heel corrects on Coleman block), no calcaneal
osteotomy or triple needed
– Hip: Late dysplasia
– Hand: Intrinsic wasting
– Spine: scoliosis
Syndromes overview
–
–
–
–
–
–
Based on 20052010 OITEs:
– Osteogenesis
imperfecta
– Neurofibromatosis
– Charcot Marie Tooth
– Arthrogryposis
– Myelomeningocele
– Marfan’s
– Down’s
Prader-Willi
Beckwith-Wiedemann
Ehler’s Danlos
Gaucher’s
Osteopetrosis
Duchenne’s MD
Will also discuss
– MPSs
– Loeys-Dietz
– Rett’s
Arthrogryposis
Term used for variety of conditions
characterized by:
– Decreased fetal movement
– Congenital joint stiffness
– Varying muscle weakness
Amyoplasia, distal arthrogryposis, multiple
pterygium syndrome, Larsen’s (flattened
facies, multiple joint dislocations, cervical
kyphosis, watch for late myelopathy)
Symptom complex rather than disease
AMC (arthrogryposis multiplex congenita,
aka amyoplasia)
– Decrease in anterior horn cells
– Normal intelligence
– Sensation intact
Arthrogryposis - amyoplasia
Common deformities
– Hip:
• Considered teratologic, so Pavlik
not indicated
• Previous controversy about
relocation
• Most authors now recommend
medial open reduction as infant
(older tests, especially if detected in
older patient, recommend obs)
– Knee:
• Flexion or extension contractures
• Correct knees before hips if ext
• Flexion deformities tend to recur
over time despite rx
Arthrogryposis - amyoplasia
Common deformities cont’d
– Foot
• Rigid clubfoot or vertical talus
• For TEV, some authors report success with Ponseti
method (prob won’t be tested)
• Treat initially with PMR
• Recurrence common
– Treat with bony procedure like talectomy or triple
arthrodesis
• CVT requires surgery
– Spine
• Often C shaped, neuromuscular-esque
• Bracing ineffective
Syndromes overview
–
–
–
–
–
–
Based on 20052010 OITEs:
– Osteogenesis
imperfecta
– Neurofibromatosis
– Charcot Marie Tooth
– Arthrogryposis
– Myelomeningocele
– Marfan’s
– Down’s
Prader-Willi
Beckwith-Wiedemann
Ehler’s Danlos
Gaucher’s
Osteopetrosis
Duchenne’s MD
Will also discuss
– MPSs
– Loeys-Dietz
– Rett’s
Myelomeningocele
Aka spina bifida
Failure of neural tube to close
– Type of spinal dysraphism
– Vs caudal regression (sacral agenesis)
• Maternal diabetes
Functional level = lowest functioning nerve root
– L4 key level (ambulatory potential): why?
Can diagnosed prenatally
– Ultrasound
– Maternal serum alpha fetal protein (if levels detectable after week
14)
Common comorbidities - kids benefit from multi-disciplinary
team
– Arnold-Chiari malformation type II
– Bowel/bladder control issues
– Latex sensitivity/allergy (may present as anaphylaxis in OR on
test)
Myelomeningocele
Incidence decreasing
– Prenatal screening
– Recognition of role of folic
acid
• Why your Cheerios are fortified
• Most studies quote 60-100%
reduction in incidence when
pregnant women given folate
• USDA rec: 0.4 mg/day
Myelomeningocele
Detailed exam important at each visit
– Looking for change in function
•
•
•
•
Increased UTIs
Loss of level (muscle testing) or function
Increased spasticity
Sudden increase in spine curve
– Get MRI of entire spine (including lower brain
stem) if any of above
• Likely increased hydrocephalus
• Vs tethered cord or hydromyelia
Fractures
– Fairly common, especially ages 3-7 about knee
and hip
– Present like infection: red, warm, swollen
• Rarely infection, but can be (probably won’t be on
test)
– Treat with brief immobilization
Myelomeningocele - ortho issues
Spine
– Scoliosis and kyphosis
– Neuromuscular curve
– Thoracic level myelos most
frequent
– Bracing not effective
– Need anterior and posterior
fusion
• Why?
– For kyphosis, may need
kyphectomy
– High complication rate
• Pseudoarthrosis
• Infection: 15-25%
Myelomeningocele - ortho issues
Hips
– Problems include
• Flexion contractures (thoracic and high
lumbar)
– Muscle/capsular release
• Abduction contracture
– Ober-Yount release
• Adduction contracture
– Adductor release
• Paralytic hip dislocation
– Most likely at L3/L4 level: why?
– Previously controversial
– Now most authors agree to leave them out
(good TSRH gait study)
– Exception: very low level sacral pt, otherwise
normal
Myelomeningocele - ortho issues
Knee
– Flexion or extension deformity
depending on level
– Soft tissue release as needed for
functional gains
Feet
– Deformity depends on level
– Rigid clubfeet, vertical talus, calcaneus
feet
– Likely level that, if functioning, is cutoff
between equinus vs calcaneus
deformity? (in reality, not this simple)
• L5
– Soft tissue releases/tendon transfers
– Avoid triple arthrodesis except in
severe deformities in sensate feet
Myelomeningocele - summary
Folic acid prevention
Sacral agenesis (on same spectrum): maternal
diabetes
Latex allergy = anaphylaxis (crashing patient) in
surgery
Change in function/scoli curve --> get MRI of entire
spine --> increased hydrocephalus (no bueno, call
neurosurg) or tethered cord
Non-op limb that looks like it might have osteo =
likely fracture
Scoli surgery = go anterior and posterior
Leave dislocated hips out (unless patient looks totally
normal and you are told has sacral myelo)
Syndromes overview
–
–
–
–
–
–
Based on 20052010 OITEs:
– Osteogenesis
imperfecta
– Neurofibromatosis
– Charcot Marie Tooth
– Arthrogryposis
– Myelomeningocele
– Marfan’s
– Down’s
Prader-Willi
Beckwith-Wiedemann
Ehler’s Danlos
Gaucher’s
Osteopetrosis
Duchenne’s MD
Will also discuss
– MPSs
– Loeys-Dietz
– Rett’s
Marfan’s syndrome
Clinically diverse group
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–
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–
–
Very tall
Long, thin limbs
Long, thin fingers
Ocular lens dislocation
Cardiac anomalies
Autosomal dominant
– Spontaneous mutation 1530% of time
Defect in fibrillin
– No good genetic test
Diagnosis made by Ghent
criteria
– Sponseller et al, JBJS 2010
Marfan’s syndrome
Orthopaedic manifestations
– Spine: Ghent criteria
• scoliosis
– 50% of patients
– Bracing usually not effective
• Spondylolisthesis
• Can have dural ectasia and
meningocele (like NF)
– Hips:
• Significant acetabular protrusio
• Can cause pain and stiffness
– Generalized joint laxity
• Genu recurvatum
• Severe pes planus
• Stick with non-op rx
Syndromes overview
–
–
–
–
–
–
Based on 20052010 OITEs:
– Osteogenesis
imperfecta
– Neurofibromatosis
– Charcot Marie Tooth
– Arthrogryposis
– Myelomeningocele
– Marfan’s
– Down’s
Prader-Willi
Beckwith-Wiedemann
Ehler’s Danlos
Gaucher’s
Osteopetrosis
Duchenne’s MD
Will also discuss
– MPSs
– Loeys-Dietz
– Rett’s
Down’s syndrome
Trisomy 21
Most common chromosomal
abnormality
Incidence increases with
increasing maternal age
– Boo
Very typical facies, hypoplastic
middle phalanx of 5th finger
Associated with
– Heart disease
– Mental retardation
– Endocrine disorders
• Hypothyroidism
• Diabetes
– Premature aging
Down’s syndrome
Ortho issues:
– General hypotonia and
ligamentous laxity
– C-spine
• Atlanto-axial
hypermobility/instability
• If ADI > 5mm, hypermobile
• Fuse if symptomatic or ADI
>10 mm
• Special olympics screening
controversial
– Avoid contact sports, diving,
gymnastics if ADI >5mm
Down’s syndrome
Ortho issues cont’d
– Hip
• SCFE
– Check thyroid!
– Unstable/stable doesn’t apply
» They’ll walk on unstable slips
• Dislocation
– Not congenital
» Often late and dynamic
– Rx challenge
» Req OR, + likely osteotomy
– Knees
• Patellofemoral instability
– Very debilitating
– If symptomatic, realignment procedure
– If asymptomatic, detected late, and patient can extend knee,
don’t operate
Syndromes overview
–
–
–
–
–
–
Based on 20052010 OITEs:
– Osteogenesis
imperfecta
– Neurofibromatosis
– Charcot Marie Tooth
– Arthrogryposis
– Myelomeningocele
– Marfan’s
– Down’s
Prader-Willi
Beckwith-Wiedemann
Ehler’s Danlos
Gaucher’s
Osteopetrosis
Duchenne’s MD
Will also discuss
– MPSs
– Loeys-Dietz
– Rett’s
Prader-Willi
Partial chromosome 15
deletion
– Example of genetic imprinting
• Copy from dad: Prader Willi
• Copy from mom: Angelman
syndrome
Floppy, hypotonic infant -->
intellectually impaired,
obese adult with insatiable
appetite
Ortho issues: growth
retardation (in height), hip
dysplasia, JIS
Beckwith-Wiedemann syndrome
On differential of
hemihypertrophy
Characterized by:
–
–
–
–
Large tongue
Omphalocele
Organomegaly
Exophthalmos
Watch for
– Neonatal hypoglycemia (can
be fatal if undetected)
– Intra-abdominal tumors
• 40% chance of malignancy
• Wilms, hepatoblastoma
Ehler’s Danlos
Autosomal dominant condition
– Multiple types
– Types I and II due to collagen V mutation
Hyperextensible skin (tissue-paper skin)
– Wide, atrophic scars
Hypermobile joints
– Frequent dislocations
Can see DDH, clubfeet, scoliosis
Soft tissue procedures usually fail
– “dumb” soft tissue
Gaucher’s Disease
Autosomal recessive
Lysosomal storage disease
Deficiency in betaglucocerebrosidase
– Leads to accumulation of
cerebrosides in cells of RES
See:
– Hip AVN
• On differential of bilateral,
symmetric Perthes
– Erlenmeyer’s flask distal
femurs
– Severe bone pain: “Gaucher’s
crises”
– hepatosplenomegaly
Osteopetrosis
“marble bone” disease
– Bone looks dense
– But is brittle
– “rugger jersey” spine
Failure of osteoclastic resorption
– No ruffled border
Mild form: AD
Malignant (infantile) form: AR
Medullary canal is obliterated
– Pancytopenia
• Can be life threatening in malignant form
• BMT
Healing may be slow
– Coxa vara common deformity due to
repetitive stress fractures
Duchenne’s Muscular Dystrophy
Most common muscular dystrophy
– Lack of dystrophin protein
• Stabilizes cell membrane cytoskeleton
• Steroids may help
– Diagnosis: genetic testing and muscle
biopsy
X-linked recessive
– What female can exhibit it?
• Turner’s: XO
Insidious onset of weakness
between ages 3 to 6 years
– Why I always do a Gower’s on any
intoer or toe walker
– Proximal muscles affected before distal
• Calf pseudohypertrophy
Duchenne’s Muscular Dystrophy
Ortho issues:
– Feet:
• Ankle equinus contracture occurs first
• Then equinovarus as posterior tib continues to
function
– Can transfer tendon to maintain walking ability
– Hip
• Abduction and flexion contractures
– Spine: scoliosis
• Develops in almost all patients, esp after stop
walking (usually around age 10)
• Unrelenting progression
– No role for bracing
• Indications for surgery (posterior, to pelvis)
– Curve > 20-30 degrees
– Patient non-ambulatory
– Preferably before FVC is <35% age matched
normals
Mucopolysaccharidoses (MPSs)
Group of proportionate
dwarfisms
– Caused by hydrolase enzyme
deficiency leading to
accumulation of complex
sugars
• See in urine
4 types
– Type I: Hurler’s
• Worst prognosis (“hurl” when
you hear dx)
• AR
• Dermatan/heparan sulfate
– Type II: Hunter’s
• X-linked recessive (boys are
hunters)
• Dermatan/heparan sulfate
– Type III: Sanfilippo’s
• AR
• Heparan sulfate
– Type IV: Morquio’s
• Most common
• AR
• Normal intelligence
• Keratan sulfate
• Numerous ortho issues
– C1-2 instability often
requires
decompression/fusion
MPS - Morquio’s
Last few…
Loeys-Dietz:
– Can be confused for
Marfan’s or Ehler’s
Danlos
– Mutation in gene for TGF
beta receptor
– Spine (C-spine, scoli) and
foot (TEV)
Rett’s:
– Progressive impairment in
girls
• Develop normally until 618 months of age, then
lose milestones
– Stereotaxic hand
movements (“pill-rolling”)
– Neuromuscular scoliosis
Friedrich’s ataxia:
– Spinocerebellar
degenerative disease
– Abnormality of frataxin
– Wide-based gait
– CMT-like feet
– AIS-like scoliosis
Klippel-Feil
– Low hairline, webbed
neck, congenital fusion of
cervical vertebrae
– Check for renal
abnormalities
That’s it!