Toggle Main Menu Toggle Search

Open Access padlockePrints

Intellectual disability in paediatric patients with genetic muscle diseases

Lookup NU author(s): Dr Sabine Specht, Professor Volker StraubORCiD


Full text for this publication is not currently held within this repository. Alternative links are provided below where available.


© 2021 Elsevier B.V.The differential diagnosis of genetic muscle disease has become increasingly difficult due to the rapid progress in genetic medicine in recent years. Where classifications based on the clinical picture were attributed to one gene only a few years ago, today we know that a variety of clinical presentations can result from the same mutation and, conversely, various genes are associated with a similar phenotype. A significant consideration in assessing a patient with muscle weakness is the presence or absence of intellectual disability, thus narrowing the differential diagnostic approach in any child with an as yet undiagnosed muscle disease. Intellectual disability in neuromuscular diseases is often associated with behavioural disorders and may be correlated with abnormal brain imaging. Conversely, brain involvement can sometimes be seen without intellectual disability, but may be associated with an epilepsy risk and is helpful for the differential diagnosis. This review focuses on the three most common causes of paediatric muscle diseases with intellectual disability, dystrophinopathies, myotonic dystrophy type 1 and dystroglycanopathies. It also summarises differential diagnostic considerations when assessing a child with a genetic muscle disease and intellectual disability. The recent scientific literature on this topic is reviewed, the frequency of intellectual disability assessed, and specific clinical features are described. Where available, data on disease onset, progression and serum creatine kinase levels are presented and the pattern of muscle involvement described in an algorithm. Central nervous involvement and brain imaging analysis was reviewed and included.

Publication metadata

Author(s): Specht S, Straub V

Publication type: Review

Publication status: Published

Journal: Neuromuscular Disorders

Year: 2021

Volume: 31

Issue: 10

Pages: 988-997

Print publication date: 01/10/2021

Online publication date: 01/10/2021

Acceptance date: 27/08/2021

ISSN (print): 0960-8966

ISSN (electronic): 1873-2364

Publisher: Elsevier Ltd


DOI: 10.1016/j.nmd.2021.08.012