|
| Disease name | Multiple epiphyseal dysplasia (MED) | Multiple epiphyseal dysplasia (MED) | Camurati-Englemann disease (CED) | Marfan syndrome (MFS1) | Schwartz-Jampel syndrome (SJS1) |
|
| Alternative name | EDM3 | EDM1 | Progressive diaphyseal dysplasia | | Chondrodystrophic myotonia |
|
| Mode of inheritance | Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal recessive |
|
| Gene | COL9A3 | COMP | TGF-1 | Fibrilin-1 | Perlecan |
|
| Skeletal symptoms | Epiphyseal dysplasia, early onset degenerative joint disease (knees), mild or no short limbed dwarfism | Epiphyseal dysplasia, early onset degenerative joint disease, mild short limbed dwarfism | Thicker bone diaphyses, thicker bones of the skull, tighter bone canals, bone pain, hyperlordosis, scoliosis | Increased height, scoliosis, thoracic lordosis, highly arched palate with tooth crowding | Short femurs, short stature, micrognathia, kyphoscoliosis, joint deformities, coxa valga, irregular capital femoral epiphyses |
|
| Skeletal onset | Childhood | 3 years | 3 years | Childhood | 3 years, muscle stiffness after birth |
|
| Muscular symptoms | Mild muscle weakness, difficulty rising form the floor | Muscle weakness, easy fatigue, difficulty rising form the floor | Easy fatigue, proximal muscle weakness and atrophy, waddling gait | Mild to moderate joint laxity, muscle weakness, muscle atrophy, hypoplasia, cannot increase muscle mass in response to exercise | Mild largely non-progressive muscle weakness, stiffness, myotonic myopathy, waddling gait, crouched stance, hypertrophy, reduced tendon reflexes, joint contractures |
|
| CK levels | Mildly elevated | Normal or mildly elevated | Elevated up to 40% | Normal or mildly elevated | Normal or mildly elevated |
|
| Muscle biopsy | Mild myopathy, a slight variability in fiber size | No variability in fiber size, scattered basophilic fibers and/or small atrophic fibers | Often normal, occasional variability in fiber size | Sometimes myopathic changes seen, abnormalities in fibrilin-1 immunoreactivity | Central nuclei, varied fiber size, changes of fiber type |
|
| Muscle electron microscopy | — | — | Thicker basement membrane around the blood vessels, few fibers with accumulated mitochondria | — | — |
|
| EMG | — | — | Short small action potentials in some muscles, myopathic | Myopathic and neurogenic | Myotonic abnormalities |
|
| Other affected tissues | — | — | Liver, spleen, gonads (hepatosplenomegaly and hypogonadism) | Eyes: myopia, ectopia lensis, corneal flatness | Eyes: myopia, blepharophimosis |
|
| Possible therapy | Not available | Not available | Corticosteroids | Lasartan (aortic aneurism, and muscle involvement) | Reducing muscle stiffness, anticonvulsants and antiarrhythemics |
|
