Kuskokwim Syndrome (Arthrogryposis-like syndrome): Difference between revisions

From Guide to YKHC Medical Practices

(Created page with "''(Adapted from Pocket Guide to Alaska Native Pediatric Diagnoses)'' <br/>'''Pathophysiology:''' Mutation i...")
 
 
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*Bracing and surgical correction of lower extremity contractures to allow ambulation
*Bracing and surgical correction of lower extremity contractures to allow ambulation
*Occupation Therapy and Physical Therapy to enhance upper limb movement for self-care and lower limb movement for ambulation
*Occupation Therapy and Physical Therapy to enhance upper limb movement for self-care and lower limb movement for ambulation
'''Resources:'''
===Resources/References===
*NIH Genetic and Are Diseases Information Center:  https://rarediseases.info.nih.gov/gard/3150/kuskokwim-disease/resources/1
*NIH Genetic and Are Diseases Information Center:  https://rarediseases.info.nih.gov/gard/3150/kuskokwim-disease/resources/1
*National Library of Medicine Genetics Home Reference:  http://ghr.nlm.nih.gov/condition/kuskokwim-syndrome
*National Library of Medicine Genetics Home Reference:  http://ghr.nlm.nih.gov/condition/kuskokwim-syndrome
*[[media:Kuskokwim-Syndrome.pdf|Kuskokwim Syndrome Research Article PDF]]
*[[media:Kuskokwim-Syndrome.pdf|Kuskokwim Syndrome Research Article PDF]]
*[[media:jama-kusko disease.pdf|Arthrogryposis Syndrome (Kuskokwim Disease) in the Eskimo -- Jach H. Petajan, et al]]
*[[media:jama-kusko disease.pdf|Arthrogryposis Syndrome (Kuskokwim Disease) in the Eskimo -- Jach H. Petajan, et al]]


[[Practicing Medicine in Bush Alaska—Some ABCs|Common/Unique Medical Diagnoses]]
[[Practicing Medicine in Bush Alaska—Some ABCs|Common/Unique Medical Diagnoses]]

Latest revision as of 14:05, 20 November 2020

(Adapted from Pocket Guide to Alaska Native Pediatric Diagnoses)
Pathophysiology: Mutation in the FKBP10 gene resulting in the impaired collagen cross-linking and disorganization of collagen molecules causing congenital joint contractures
Inheritance: Autosomal recessive
Demographics:

  • rare, incidence unknown
  • Found only in the Yupik population in the Bethel Area

Signs/Symptoms:

  • range and severity of contractures varies greatly
  • contractures are generally present at birth, worsen during childhood, then stabilize
  • often contractures of large joints, especially knees and elbows
  • other joints may also be involved, especially in lower extremities
  • milder skeletal features are common including
    • Spine: scoliosis, lordosis, spondylolisthesis
    • Feet: bunions (hallux valgus), flat feet (plano valgus), club feet (talipes equinovarus)

Diagnosis: Genetic testing - discuss with YKHC On-call Pediatrician
Management:

  • refer to Pediatric Orthopedics
  • Bracing and surgical correction of lower extremity contractures to allow ambulation
  • Occupation Therapy and Physical Therapy to enhance upper limb movement for self-care and lower limb movement for ambulation

Resources/References


Common/Unique Medical Diagnoses