Rare Genetic Disorders

Angelman Syndrome

Signs and symptoms:

  • Severe developmental delay and learning disabilities
  • Jerky movements of the arm and legs 
  • May include sleep disorders, seizures, and feeding disorders 
  • Significant communication difficulties 
  • Motor involvement:
    • Tremors
    • Wide based gait
    • Jerkiness
    • Ataxia (presence of abnormal, uncoordinated movements) 
    • Loss of balance

How physio can help:

  • Work on mobility, gross motor function, strength, and increasing bone density
  • Monitor for scoliosis
  • Make recommendations for the use of orthotics

Kabuki Syndrome

Signs and symptoms:

  • Characteristic facial appearance: Microcephaly, hypotonia, eye problems, cleft palate
  • Mild to moderate intellectual disability 
  • Skeletal abnormalities including spine abnormalities and joint dislocations

How physio can help:

    • Play therapy to help with gross motor development and strengthening

Prader-Willi Syndrome

Signs and symptoms:

  • A genetic multi-system disorder characterized during infancy by lethargy, diminished muscle tone, weak suck and feeding difficulties with poor weight gain, cognitive impairments and growth, and hormone deficiency 

How physio can help:

  • Early intervention to help support meeting motor milestones
  • On-going play-based physiotherapy for endurance, strength, and development