Week 6 - Genetic disease

Question 1

CMT

Answer 1

group of hereditary motor and sensory neuropathies and multiple causative genes
- affects the peripheral nerves that control muscle movement and relay sensation in the hands and feet

LL affect: foot deformities = pes cavus, foot drop, foot ulcers, muscle cramps

Question 2

Ehlers-Danlos syndrome and impact on LL

Answer 2

genetic disorders of collagen affecting body’s connective tissues including skin, joints and blood vessels

excessive amount of collagen produced causing increased elasticity of skin, atrophic scarring, hypermobile joints and fragile blood vessels

• hypermobility - increase risk of sprains and dislocations
• ankle/foot pain
• more prone to ulcers, ingrown and blistering

Question 3

Osteogenesis imperfecta

Answer 3

Group of genetic disorders that affect the bodies ability to produce collagen. increasing individuals risk of fractures particularly in WB bones of the feet and ankle

management - orthotics and exercises to improve strength and flexibility in feet and ankles

Question 4

Duchennes musclar dystrophy

Answer 4

X-linked recessive - mainly affects males caused by mutation in the dystrophin gene which leads to a deficiency of the dystrophin protein a vital component of muscle fibres = progressive muscle weakness and wasting

clinical
- proximal muscle weakness - lumbar lordosis, frequent falls, difficulty risking to feet

abnormal gait
equinus deformity

Question 5

Down syndrome

Answer 5

Trisomy 21 - aditional
present with:
- cognitive impairment
- physical growth delays with short stature

derm conditions:
- callus, interdigital maceration and excessive dry skin

MSK
- FF problems due to poor muscle tone
- develop HV
- lead to foot pain and problems walking and balancing