Myotonic dystrophy type 2: neurological features

Genetics

• This is caused by mutations in the CNBP gene (formerly ZNF9)
• It is a CCTG repeat expansion
• The normal repeat number is 10-30: this expands with age 
• There is no genetic anticipation
• The onset is in the second to sixth decade
• There are no congenital or early onset cases
• Females are worse affected

Muscular features

Peripheral neuropathy (PN): types

Cognitive features

Sleep-related disorders

Other neurological features

Associated autoimmune neurological disorders

Features suggestive of myotonic dystrophy type 2 against type1

Differential diagnosis

Significant predictors of myotonic dystrophy type 2

References

1. Meola G. Myotonic dystrophy type 2: the 2020 update. Acta Myol 2020; 39:222-234.
2. Meola G, Cardani R. Myotonic dystrophy type 2: an update on clinical aspects, genetic and pathomolecular mechanism. J Neuromuscul Dis 2015; 2(s2):S59-S71.
3. Day JW, Ricker K, Jacobsen JF, et al. Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrum. Neurology 2003; 60:657-664.
4. Finsterer J. Myotonic dystrophy type 2. Eur J Neurol 2002; 9:441-447.
5. Bertorini TE. Neuromuscular Case studies. Butterworth Heinemann Philadelphia 2008 pp618-619.
6. And 17 more. Subscribe to see the full list

Related checklists

• Myotonic dystrophy type 2: systemic features
• Myotonic dystrophy type 2: management