wk 6- genetic disease

Question 1

what conditions are autosomal dominant

Answer 1

CMT
osteogenesis imperfecta
Ehlers Danlos syndrome

Question 2

what condition is X linked recessive (affects mostly males only, females would require 2 X alleles

Answer 2

Duchennes muscular dystrophy

Question 3

what is CMT

Answer 3

group of hereditary motor and sensory neuropathies with multiple causative genes

affects peripheral nerves and involves progressive muscle weakness, loss of muscle tissue and decreased sensation in extremities

Question 4

what are the podiatric complications of CMT

Answer 4

• foot drop (weakness of muscles), risk of falls and injuries
  -foot deformities (high arches, hammertoes)
  -foot ulcers (reduce sensation, less surface contact = more pressure)
  -muscle cramps and spasms

Question 5

how to diagnosis CMT

Answer 5

-neurologist
-neural-axis imaging
-nerve conduction testing
-electromypgraphy

Question 6

what is Ehlers Danlos Syndrome

Answer 6

group of genetic disorders of collagen affecting the body’s connective tissues (skin, joints,blood vessels)

Question 7

podiatric complications of ehlers

Answer 7

• joint instability
  -hypermobility: increased risk of injuries, taping and orthotics necessary to reduce risk
  -foot deformities
  -skin issues, prone to ulcers, ingrowns and blistering

Question 8

osteogenesis imperfecta

Answer 8

group of genetic disorders that affects the bodys ability to produce collagen, a protein which provides strength and flexibility to bones and other connective tissues

also known as brittle bone disease

Question 9

podiatric considerations for OI

Answer 9

-at high risk of fractures
-at higher risk of skeletal deformities like scoliosis or bowing
-plantar fascitis and achilles tendonitis is common
-orthotics/exercises necessary to improve flexibility and strength

Question 10

marfans syndrome

Answer 10

mutation in the marfans syndrome gene

Question 11

duchenne’s muscular destrophy

Answer 11

caused by mutation in the dystrophin gene which leads to deficiency of the dystrophin protein - vital component of muscle fibers

as a result causes progressive muscle weakness and wasting

obvious by year 4 and approx death by year 20

no cure

Question 12

podiatric considerations for duchenne’s

Answer 12

-abnormal gait with pain and discomfort
-equinas deformity caused by contraction and tightness in achilles tendon

Question 13

down syndrome

Answer 13

caused by an extra chromosome 21 (trisomy 21) or sometimes translocation of chromosome 21 long arm onto long arm of chromosome 14

Question 14

podiatric considerations for down syndrome

Answer 14

-derm conditions (callus, maceration interdigitally, dryness, fissures, nail problems like ingrown and infections)

-foot deformity (poor muscle tone, hallux valgus, wider foot)