Neuromuscular diseases

Cognitive deficits are common in individuals with neuromuscular disorders^1,2 and represent candidate targets for existing and novel treatments. Some new treatments may be ‘CNS penetrant’ and therefore unexpected negative effects on cognition should be ruled out.

Our recommended test battery for neuromuscular diseases assesses the key cognitive domains often implicated in such disorders, as well as those likely to be affected by pharmacological interventions.  

Measures

• Executive function
• Sustained attention
• Episodic memory
• Processing speed

CANTAB Tests

• Motor Screening Task (MOT): 2 minutes
• Paired Associates Learning (PAL): 8 minutes
• Reaction Time (RTI): 3 minutes
• Spatial Working Memory (SWM): 4 minutes
• Rapid Visual Information Processing (RVP): 7 minutes
• Match to Sample Visual Search (MTS): 7 minutes

Research

Peric et al., 2010 studied the cognitive impairments within Myotonic dystrophy type 1 and two (DM1, DM2) which are clinically similar, yet distinct autosomal dominantly inherited, multi-systemic diseases. Findings show cognitive impairments across working memory and executive function abilities in more than 50% of patients.

_{Summary of results from Peric et al, 2010.} 

Key References

McDonald CM, Fowler WM Jr. The role of the neuromuscular medicine and physiatry specialists in the multidisciplinary management of neuromuscular disease. Phys Med Rehabil Clin N Am. 2012 Aug;23(3):475-93.

Deenen JCW, Horlings CGC, Verschuuren JGM, Verbreek ALM, van Engelen BGM.  The Epidemiology of Neuromuscular Disorders: A Comprehensive Overview of the Literature. Journal of Neuromusc Dis (2015), 2(1), 73-85.

Benchaouir R, Robin V, Goyenvalle A. Gene and splicing therapies for neuromuscular diseases. Front Biosci (Landmark Ed). 2015 Jun 1;20:1190-233.

Raaphorst J, de Visser M, Linssen WH, de Haan RJ, Schmand B. The cognitive profile of amyotrophic lateral sclerosis: A meta-analysis. Amyotroph Lateral Scler. 2010;11(1-2):27-37.

Peric, S., Mandic-Stojmenovic, G., Stefanova, E., Savic-Pavicevic, D., Pesovic, J., Ilic, V., Dobricic, V., Basta, I., Lavrnic, D., Rakocevic-Stojanovic V. (2014) Frontostriatal dysexecutive syndrome: a core cognitive feature of myotonic dystrophy type 2. Journal of Neurology. 2014, 262(1):142-8.

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1. _{Raaphorst J, de Visser M, Linssen WH, de Haan RJ, Schmand B. The cognitive profile of amyotrophic lateral sclerosis: A meta-analysis. Amyotroph Lateral Scler. 2010;11(1-2):27-37.}
2. _{Cotton S, Voudouris NJ, Greenwood KM. Intelligence and Duchenne muscular dystrophy: full-scale, verbal, and performance intelligence quotients. Dev Med Child Neurol. 2001 Jul;43(7):497-501.}