congenital myasthenic syndrome 9

A congenital myasthenic syndrome characterized by autosomal recessive inheritance of defects in postsynaptic neuromuscular junctions, reduced miniature endplate potential amplitude, proximal muscle weakness and episodic respiratory insufficiency that has_mater

A congenital myasthenic syndrome characterized by autosomal recessive inheritance of defects in postsynaptic neuromuscular junctions, reduced miniature endplate potential amplitude, proximal muscle weakness and episodic respiratory insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MUSK gene on chromosome 9q31.

Signs and symptoms

• Fatigable weakness
• Hypotonia
• Weakness of facial musculature
• Tongue atrophy
• Axial muscle weakness
• Upgaze palsy
• Generalized muscle weakness
• Easy fatigability
• Sleep apnea
• Ptosis

Also known as: CMS9; congenital myasthenic syndrome 9, associated with acetylcholine receptor deficiency