Conditions / Genetic
congenital myasthenic syndrome 7
info · Genetic
A congenital myasthenic syndrome characterized by autosomal dominant inheritance of presynaptic defects with onset of symptoms in early childhood that has_material_basis_in heterozygous mutation in the SYT2 gene on chromosome 1q32.
Signs and symptoms
- Areflexia
- Decreased compound muscle action potential amplitude
- Hammertoe
- Compound muscle action potential amplitude facilitation
- Pes cavus
- Foot dorsiflexor weakness
- Hyporeflexia
- Distal muscle weakness
- Easy fatigability
- Distal amyotrophy
Also known as: CMS7; congenital myasthenic syndrome 7 presynaptic