diagnosis - uafs
TRANSCRIPT
Arthrogryposis is defined as a group of neurologic, muscular, and
connective tissue disorders that are characterized by multiple severe
bony deformities and joint contractures in newborns, which can
cause muscle weakness and fibrosis. This disease affects 1 in 3000
newborn children. (Dimitraki et al., 2011; Seattle Children’s Hospital, 2016)
Diagnosis
X-ray• Always include x-ray of spine &
pelvis
• Bony Abnormalities
• Missing bones
• Skeletal dysplasias
• Scoliosis
• Fractures from difficult delivery
Ultrasound• Fixed contractures & lack of mobility
• Abnormal limb positioning
• Club feet
• Scoliosis
CT & MRI• Assess muscle mass
• Abnormal Tissues in CNS
Electromyogram• Measures activity of muscles at rest
and during contraction
Nerve Conduction Studies• Measures how efficiently nerves
send signals to muscles in the body(Seattle Children’s Hospital, 2016)
Causes
•Neurologic: CNS, Spinal cord
•Muscular: Tendons, Bones, Joints
•Connective Tissue: Fibrosis
Intrinsic Factors
•Family History
•Maternal Illness: Rubella, Diabetes Mellitis
•Trauma
•Drug Abuse: Alcohol, Smoking, Drugs
Extrinsic Factors
• The actual cause of
AMC is unknown
• The main contributing
factor is fetal akinesia
• Fetal akinesia results
from both intrinsic and
extrinsic factors(Kalampokas et al., 2012; Seattle Children’s Hospital, 2016)
Types
• Most common type
• 25-30% of affected individuals
• Affects both arms & legs
• Lack muscular development &
range of motion in joints
• Deformation of joints
• Affects internal organs as well as
muscles & joints
• Breathing and feeding
complications
• Speech disorders
• Developmental delays
• Generally affects only a few
joints, usually in the hands & feet
• Limited range of motion
Amyoplasia
Syndromic
Distal
Symptoms
• Thin, weak, stiff, or missing muscles
• 2 or more joint malformations
• Curving or bowing of the bones above or below affected
joints
• Stiff joints due to fibrosis
• Webbing of the skin around the joints(Hall, 2013; Kalampokas et al., 2012; Seattle Children’s Hospital, 2016)
Treatments
Surgical
Open Reduction• Return dislocated joint to
proper place
• Performed in older children or
children whose joints do not
move back with closed
reduction
Tenotomy• Surgical cutting of tendon
• Releases tight tendon
• Most often used for clubfoot
Osteotomy• Surgical cutting of bone to
shorten or lengthen
• Realigns bone above and
below affected tendon
Capsulotomy• Surgical cutting through joint
capsule if it restricts any
movement
Non-Surgical
Closed Reduction• Non-surgical procedure to set a
bone into proper position
• Allows bone to grow normally
Physical/Occupation al Therapy• Begin at birth and continue
throughout the lifetime
• Improves strength and flexibility
Casts & Braces• Used after reduction procedure
or osteotomy
• Further corrects joint damage
Genetic Counseling• Aids in support for affected
individuals and their families(Hall, 2013; Seattle Children’s Hospital, 2016)
Prognosis
• Not a progressive disorder
• Typically have normal speech and learning capabilities
• Ability to live a successful and rewarding life