Conditions / Genetic
congenital myasthenic syndrome 10
info · Genetic
A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a postsynaptic defect affecting endplate maintenance of the NMJ and development of limb-girdle weakness in the first decade of life that has_material_basis_in homozygous or co
A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a postsynaptic defect affecting endplate maintenance of the NMJ and development of limb-girdle weakness in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the DOK7 gene on chromosome 4p16.
Signs and symptoms
- Weakness of facial musculature
- Axial muscle weakness
- Ptosis
- Easy fatigability
- Fatigable weakness
- Distal amyotrophy
- Bulbar palsy
- Muscle spasm
- Gowers sign
- Mildly elevated creatine kinase
Also known as: CMS10; LGM; congenital muscular dystrophy merosin-positive; familial limb-girdle myasthenia