Myotonic dystrophy type 2: neurological features

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Myotonic dystrophy type 2: neurological features. This is caused by mutations in the CNBP gene (formerly ZNF9). Fully referenced neurology checklist.

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

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Peripheral neuropathy (PN): types

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Cognitive features

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Sleep-related disorders

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Other neurological features

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Associated autoimmune neurological disorders

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Features suggestive of myotonic dystrophy type 2 against type1

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Differential diagnosis

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Significant predictors of myotonic dystrophy type 2

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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

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