Congenital myasthenic syndrome (CMS): DOK7
Evidence-based neurology checklist on congenital myasthenic syndrome (cms): dok7: Pathology DOK7 interacts with MUSK There are no tubular aggregates on muscle biopsy Acetylcholine receptor (AChR) antibodies are negative Onset age is from birth to the third decade Ophthalmic features Facial and…
Pathology
- DOK7 interacts with MUSK
- There are no tubular aggregates on muscle biopsy
- Acetylcholine receptor (AChR) antibodies are negative
- Onset age is from birth to the third decade
Ophthalmic features
Facial and bulbar features
Limb weakness
Skeletal features
Respiratory features
Treatment
References
- Palace J, Lashley D, Newsom-Davis J, et al. Clinical features of the DOK7 neuromuscular junction synaptopathy. Brain 2007; 130:1507-1515.
- Muller JS, Herczegfalvi A, Vilchez JJ, et al. Phenotypic spectrum of DOK7 mutations in congenital myasthenic syndromes. Brain 2007; 130:1497-1506.
- Beeson D. Congenital myasthenic syndromes. ACNR 2011; 11:10-14.
- Finlayson S, Beeson D, Palace J. Congenital myasthenic syndrome: an update. Pract Neurol 2013; 13:80-91.
Related checklists
- Congenital myasthenic syndrome (CMS): genetic classification
- Congenital myasthenic syndrome (CMS): pathway classification
- Congenital myasthenic syndrome (CMS): general features
- Congenital myasthenic syndrome (CMS): MUSK
- Congenital myasthenic syndrome (CMS): RAPSN
- Congenital myasthenic syndrome (CMS): COLQ
- Congenital myasthenic syndrome (CMS): AGRIN
- Congenital myasthenic syndrome (CMS): CHAT
- Congenital myasthenic syndrome (CMS): LAMB2
- Congenital myasthenic syndrome (CMS): GMPPB
- Congenital myasthenic syndrome (CMS): fast channel
- Congenital myasthenic syndrome (CMS): slow channel
- Congenital myasthenic syndrome (CMS): limb girdle
- Congenital myasthenic syndrome (CMS): glycosylation defects
- Congenital myasthenic syndrome with episodic apnoea (CMS-EA)
- Congenital myasthenic syndromes (CMS) presenting in adulthood
