Her 18-year-old brother James, who also has osteogenesis imperfecta
, became an Eagle Scout in June.
is a genetic disorder that is characterized by bone fragility.
The Anti-resorptive activity leads to decrease in bone turnover, which is the basis for use of this drug in Osteogenesis imperfecta
Osteogenesis imperfecta Osteogenesis imperfecta
, also known as brittle bone disease, or OI, is a congenital bone disorder characterized by brittle bones prone to fracture.
7) In vivo studies have also demonstrated a difference in the serum fetuin-A concentrations in patients with Paget's disease, (24) and those with osteogenesis imperfecta
, (25) compared with those found in healthy controls.
Dural ectasia is as a key characteristic of Marfan syndrome but may also be associated with Ehlers-Danlos syndrome, neurofibromatosis, ankylosing spondylitis and osteogenesis imperfecta
Prof Hans Lochmuller's research will look at the following rare diseases: Muscular dystrophy, spinal muscular atrophy, Cystic Fibrosis, spinocerebellar ataxia, Huntington''s disease, osteogenesis imperfecta
, Ehlers-Danlos syndrome, epidermolysis bullosa, Rett syndrome, Marfan syndrome, hemochromatosis, thalassaemia, mucopolysaccharidosis, polycystic kidney disease, Nephrotic syndrome, haemophilia, progeria and amyotrophic lateral sclerosis.
Amy and Ava, from Cambuslang, near Glasgow, were born with Osteogenesis Imperfecta
- or brittle bones.
(OI) is a heterogeneous group of genetic bone disorders that are characterised by decreased bone mass, increased bone fragility and susceptibility to fractures.
The world-famous therapist, motivational speaker and best-selling author is afflicted with osteogenesis imperfecta
, a genetic disorder commonly known as "brittle bone disease.
In addition to Larsen syndrome and otosclerosis, osteogenesis imperfecta
and Paget's disease are frequently associated with hearing loss.
Both have the genetic condition Osteogenesis Imperfecta
, usually known as Brittle Bone Disease, and both have refused to allow it to limit their horizons.