Conditions / Genetic
centronuclear myopathy 1
info · Genetic
An autosomal dominant centronuclear myopathy characterized by slowly progressive muscle wasting and weakness involving mainly the limb girdle, trunk, and neck muscles that has_material_basis_in heterozygous mutation in DNM2 on 19p13.2.
Signs and symptoms
- Proximal upper limb amyotrophy
- Distal muscle weakness
- Generalized hypotonia
- Muscle fibrillation
- Proximal amyotrophy
- Proximal upper limb muscle weakness
- EMG: positive sharp waves
- EMG: myotonic discharges
- Mildly elevated creatine kinase
- Distal lower limb muscle weakness
Also known as: CNM1