Neuromuscular disorders Flashcards
Marfan's syndrome Arthrogyrposis Larsen's syndrome Freidreich's ataxia Charcot- marie Tooth Myelodysplasia ( spina bifidia) (82 cards)
What is Marfan’s syndrome?
-
A connective tissue disorder associated with
- long limbs
- Skeletal Abnormalities
- cardiovascular abnormalities
- ocular abnormalities

What is the epidemiology of Marfan’s Syndrome?
- 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
What is fibrillin?
- A gylcoprotein common in many tissues
- which is a structural component of elastin- containing microfibrils
Name any associated conditions?
- 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

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

What imaging is useful in Marfan’s syndrome?
- 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

What is the tx of marfan’s Scoliosis?
-
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
-
ASF+ PSF w instrumentation
What is the tx of Marfan’s Protrusio?
- Observe until severe symptoms develop
What is the tx of Marfan’s Joint laxity
- Non operative
- Observation and orthotics as indicated
What is the post op complications of scoliosis surgery for Marfan’s syndrome?
- 10-20% incidence following scoliosis surgery
- infection
- failure of instrumentation
- pseudoarthrosis
- decompensation of curve
What is this?

- 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

What is the epidemiology and mechanism of Arthrogyroposis?
- 1 in 3,000 live births
-
symmetry of contractures due to immobilisation in utero
- neurogenic 90%
- Myopathic 10%
What is the pathophysiology of Arthrogyroposis?
- Exact mechanism unknown
- Some mothers have serum antibodies inhibiting fetal acetylcholine-> a decreased no of anterior horn cells
Name associated condition of Arthrogyroposis?
- Hip subluxation and dislocation
- knee contractures
- clubfoot
- vertical talus
- neuromuscular C shaped scoliosis- 33%
- Fractures 25%
What is the prognosis of Arthrogyroposis?
- 25% Non ambulatory
Describe the classification of Arthrogyroposis?
- 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
What are the signs of Arthrogyroposis?
- 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

What studies are preformed on a child with Arthrogyroposis?
- At 3-4 months old
- neurologial studies
- enzyme tests
- muscle biopsies
Describe the tx if upper limb deformities in Arthrogyroposis?
- 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
Describe the surgical tx of upper limb deformities in Arthrogyroposis?
-
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
Decribe the tx of hip subluxation and dislocation in Arthrogyroposis?
- 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
Describe the tx of knee contractures in Arthrogyroposis?
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
Describe the tx of clubfoot in Arthrogyroposis?
- 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
-
soft tissue release
Describe the tx of vertical talus in Arthrogyroposis?
- Operative
- soft tissue release
- lengthened of peroneals, achilles tendon
- first line
- lengthened of peroneals, achilles tendon
- talectomy
- if deformities recur despite soft tissue release
- soft tissue release










