Musculoskeletal Diseases
Genetic disorders involving the musculoskeletal system remain a diagnostic challenge because of the many different types and presentations. Take for instance skeletal dysplasias. There have been ~ 400 different forms of this type of disease described so far. Advances in molecular genetics have played a pivotal role in helping to provide a better understanding that even one gene mutation type and location can have on the spectrum of a disease.
- ACH - See Achondroplasia
- Achondroplasia
- Achondroplastic dwarfism - See Achondroplasia
- ankylosing spondylitis
- Arts syndrome
- Barth syndrome
- beta-glucuronidase Deficiency - See Mucopolysaccharidosis Type VII
- Cartilage-hair hypoplasia
- Cornelia de Lange syndrome
- Crouzon syndrome
- Ehlers-Danlos syndrome, Kyphoscoliotic type (type VI)
- Gaucher disease
- Hutchinson-gilford progeria syndrome
- Hutchinson-Gilford syndrome - See Hutchinson-gilford progeria syndrome
- LGMD - See Limb-girdle muscular dystrophy
- Limb-girdle muscular dystrophy
- MPS III - See Mucopolysaccharidosis Type III
- MPS VII - See Mucopolysaccharidosis Type VII
- Mucopolysaccharidosis Type III
- Mucopolysaccharidosis Type VII
- Myotonic Dystrophy
- Oculopharyngeal muscular dystrophy
- progeria - See Hutchinson-gilford progeria syndrome
- Saethre-Chotzen syndrome
- Sanfilippo syndrome - See Mucopolysaccharidosis Type III
- Sickle-cell anemia
- Sly syndrome - See Mucopolysaccharidosis Type VII
- SMA - See Spinal muscular atrophy, type I
- SMA1 - See Spinal muscular atrophy, type I
- Smith-Lemli-Opitz syndrome
- Spinal muscular atrophy, type I
- Stickler syndrome, type i, nonsyndromic ocular
- Ullrich congenital muscular dystrophy
