congenital myasthenic syndrome 6

A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a presynaptic defect resulting in onset of muscle weakeness in infancy or early childhood and a tendency to have sudden apneic episodes that has_material_basis_in homozygous o

A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a presynaptic defect resulting in onset of muscle weakeness in infancy or early childhood and a tendency to have sudden apneic episodes that has_material_basis_in homozygous or compound heterozygous mutation in the CHAT gene on chromosome 10q.

Signs and symptoms

• Fatigable weakness
• Bulbar palsy
• Decreased miniature endplate potentials
• Type 2 muscle fiber atrophy
• Apneic episodes precipitated by illness, fatigue, stress
• Dysphagia
• Strabismus
• Sudden episodic apnea
• Respiratory distress
• Poor suck

Also known as: CMS Ia2; CMS1A2; CMS6; CMSEA; FIM