Conditions / Musculoskeletal
myotonic dystrophy type 2
info · Musculoskeletal · ICD-10: G71.1
A myotonic disease that is characterized by myotonia and progressive, proximal muscle wasting and weakness affecting the skeletal and smooth muscles of the neck, shoulders, elbows and hips and has_material_basis_in the autosomal dominant inheritance of the CNB
A myotonic disease that is characterized by myotonia and progressive, proximal muscle wasting and weakness affecting the skeletal and smooth muscles of the neck, shoulders, elbows and hips and has_material_basis_in the autosomal dominant inheritance of the CNBP (ZNF9) gene containing an expansion of a CCTG repeat in intron one.
Signs and symptoms
- Periventricular white matter hyperintensities
- Complete right bundle branch block
- Weakness of facial musculature
- Sternocleidomastoid amyotrophy
- Posterior subcapsular cataract
- Proximal muscle weakness
- Decreased circulating IgG concentration
- Generalized amyotrophy
- Hyporeflexia
- Handgrip myotonia