Congenital myasthenic syndrome (CMS): DOK7
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Congenital myasthenic syndrome (CMS): DOK7. DOK7 interacts with MUSK. Fully referenced neurology checklist.
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
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Facial and bulbar features
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Limb weakness
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Skeletal features
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Respiratory features
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Treatment
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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
