Journal article
Clinical presentations and pathophysiological mechanisms of dystroglycanopathy: advancing therapeutic strategies
Lancet neurology, Vol.25(7), pp.689-700
07/2026
DOI: 10.1016/S1474-4422(26)00191-2
PMID: 42309089
Abstract
Dystroglycanopathies are muscular dystrophies with varying clinical severities, ranging from congenital-onset to adult limb-girdle muscular dystrophy. Dystroglycanopathies are caused by a loss of function of the extracellular matrix receptor α-dystroglycan, a widely expressed cell-surface glycoprotein required for the formation and function of various muscle and non-muscle tissues. In severe clinical presentations, individuals with dystroglycanopathy experience, in addition to muscle weakness and cardiac involvement, structural ocular and CNS malformations, leading to intellectual disability and epilepsy. Currently, management is only symptomatic. Advances in the understanding of the pathophysiology and genetics have identified new therapeutic targets. Emerging therapeutic approaches, including adeno-associated virus gene therapy for limb-girdle muscular dystrophy associated with pathogenic variants in FKRP (the most common form of dystroglycanopathy) and ribitol-based therapies, are being evaluated in clinical trials and could expand treatment options.
Details
- Title: Subtitle
- Clinical presentations and pathophysiological mechanisms of dystroglycanopathy: advancing therapeutic strategies
- Creators
- Ameya S Walimbe - Baylor College of MedicineFrancesco Muntoni - Great Ormond Street HospitalKevin P Campbell - University of Iowa
- Resource Type
- Journal article
- Publication Details
- Lancet neurology, Vol.25(7), pp.689-700
- DOI
- 10.1016/S1474-4422(26)00191-2
- PMID
- 42309089
- NLM abbreviation
- Lancet Neurol
- ISSN
- 1474-4422
- eISSN
- 1474-4465
- Publisher
- Elsevier
- Grant note
- National Institute of Neurological Disorders and Stroke of the National Institutes of Health: P50NS053672
We are grateful to Amber Mower for her excellent administrative support. Research reported in this publication was supported by the National Institute of Neurological Disorders and Stroke of the National Institutes of Health under Award Number P50NS053672.
- Language
- English
- Date published
- 07/2026
- Academic Unit
- Neurology; Molecular Physiology and Biophysics; Iowa Neuroscience Institute
- Record Identifier
- 9985175374902771
Metrics
2 Record Views