Arthrogryposis Multiplex Congenita, Osteogenesis Imperfecta, Myelodysplasia, Hydrocephalus

Arthrogryposis Multiplex Congenita: (AMC) aka amyoplasia

Joint contracture in 2 or more body areas

What is the cause of AMC?

fetal akinesia/decreased intrauterine fetal movement

Incidence of AMC

1 in 3000 births

Amyoplasia contractures:

• UE: __

• Elbow __

• Wrist __

• __ feet

IR, extension, wrist flexion, club

Camptodactyly (common in distal arthrogryposis) has what three clinical features?

medially overlapping fingers

clenched fists

ulnar deviation of fingers

Talipes equionovarus

clubfoot deformity (PF + Inversion + forefoot adduction)

Stretching, ponsetti casting, tenotomy, bracing

Clubfoot deformity interventions

Myelodysplasia

Defective development of any part of the spinal cord

Classifications of myelodysplasia

occulta - hidden lesion; not visible

aperta - visible or open lesion

Rank the types of spina bifida from least severe to most severe

occulta - meningocele - myelomeningocele

ID type of spina bifida occulta: Visible abnormal pigmentation, hirsutism, and skin appendages—dimpling above the gluteal cleft

lipoma

ID type of spina bifida occulta: spinal cord is separated into hemicords each surrounded by a dural sac

diastematomyelia

ID type of spina bifida occulta: least common type occurring in the lumbar and sacral area

myelocystoceles

Difference between meningocele and myelomeningocele (aperta)

meningocele = meninges/CSF protrude into the sac (spinal cord intact)

myelomeningocele = open skin, spinal cord and nerves are present within the sac of fluid

Myelodysplasia occurs via what two processes during nervous system formation?

neurulation

canalization

neural tube defect with failed closure between the 17th and 30th day of gestation

neurulation

development of the spinal cord distal to the S2 vertebra. results in meningoceles and lipomas. cause = unknown

canalization

Three etiologies of myelodysplasia

genetic, teratogens, nutritional defects (low folic acid)

U.S.P.H recommendation amount for folic acid

400ug

Prenatal screening tests for spina bifida (3)

alpha-fetoprotein (AFP) test

amniocentesis

ultrasonography

Surgical intervention for myelomeningocele

perinatal repair

Hydrocephalus

excessive accumulation of cerebrospinal fluid in the brain or spinal cord

__ % - __ % of hydrocephalus patients require a shunt which routes excess CSF from the __ to the __.

80%-90%, ventricles to the peritoneal space

Neuro s/s of shunt malfunction

bulging fotanel

donward deviation of the eys

vomiting/appetite changes

personality changes

increased frequency of seizures

Deformity of the hindbrain with cerebellar hypoplasia resulting in displacement of hindbrain caudally through the foramen magnum

Arnold chiari II malformation

arnold chiari malformation is associated with ____

hydrocephalus

Vesicostomy procedure for neurogenic bladder

surgical opening in bladder between the pubic bone and the umbilicus to drain into a diaper

Procedure that allows a tube to be implanted into the posterior wall of the bladder and out through the umbilicus for catheterization

mitrofanoff

Catheter for neurogenic bowel

mace

A complication that is related to spina bifida occulta and is caused by limitations in the movement of the spinal cord within the spinal column

tethered spinal cord

s/s of tethered spinal cord (3)

-LBP

-weakness in legs

-incontinence depending on the site of the tethering

What test can be used for a gauge of progressive neurologic dysfunction

dynamometer grip and pinch

Six main muscles for community ambulation

-Iliopsoas

-gluteus max

-gluteus medius

-quadriceps

-anterior tib

-hamstrings

Hip subluxation/dislocation would present with limitations with which movements?

limited hip abduction and hip extension

Surgical intervention for a torsional deformity

femoral or tibial rotational osteotomy

What intervention is supported within the first 6 months for infants born with MMC?

home based treadmill (10 min, 5x/week , 12 months)

What type of gait orthosis is recommended for thoracic and high-lumbar MMC?

reciprocating gait orthosis (RGO)

Article on ambulation prediction from muscle strength in ages 5-8 found what?

-walking function at 5-8 yrs is the best predictor of adult ambulation

-those walking with a walking aid at 5-8 has a tendency to become household ambulators

Osteogenesis imperfecta pathophys

genetic disorder involving the type 1 collagen (CTD)

Which type of OI is the most severe when the fetus dies in early development?

Type 2

Which type of OI is the most mild

Type 1

Presentation: triangular face, ongoing fractures, severe osteoporosis, brittle teeth, and blue sclera

osteogenesis imperfecta