Conditions / Genetic
congenital myasthenic syndrome 14
info · Genetic
A congenital myasthenic syndrome characterized by autosomal recessive inheritance of slowly progressive development of limb-girdle muscle weakness with onset in early childhood that has_material_basis_in homozygous mutation in the ALG2 gene on chromosome 9q22.
Signs and symptoms
- Fatigable weakness
- Motor delay
- Limb-girdle muscle weakness
- EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
- Increased variability in muscle fiber diameter
- Weakness of facial musculature
- Distal joint hypermobility
- Hypotonia
- High palate
- Pes planus
Also known as: CMS14; CMSTA3; congenital myasthenic syndrome 14, with tubular aggregates; congenital myasthenic syndrome with tubular aggregates 3