extra credit case study
TRANSCRIPT
EXTRA CREDITJADE STORLEY
CONSIDER THE FOLLOWING PATIENTA 14 year old female, Hermione, who was born with a short big toe. The big toes has a deformation called valgus deviation. Since childhood she has experienced skin abnormality, ectopic calcification, and limitation in joint mobility.
QUESTIONWhat could be a potential diagnosis for this patient?
CAUSES Causes• Can be inherited as autosomal dominant trait• Mutation of a gene on chromosome 2 (2q23-24) for a
receptor in the BMP signaling pathway (ACVR1)• BMP are regulatory proteins that are used for the
formation and repair of the skeleton
DIAGNOSIS AND TREATMENTDiagnosis• Examination of big toe• Sequencing of ACVR1 gene
Treatment• No known treatments• Occupational therapy and genetic counseling may be
advised
QUESTIONHow would gene counseling be beneficial?
AFFECTED INDIVIDUALS• Very rare disease• Estimated 3,000 affected individuals worldwide• 800 known diagnosed patients• Affects all genders and ethnicities
RECOMMENDATIONS FOR AFFECTED INDIVIDUALS• Avoid intramuscular injections• Practice good oral care• Avoid traumatic injuries• Low-intensity and low-impact exercise is recommended• Avoid tight clothing (may cause flare-ups)