SynthesisJournal of neuromuscular diseases2022
Progression to Loss of Ambulation Among Patients with Autosomal Recessive Limb-girdle Muscular Dystrophy: A Systematic Review.
Synthesis in Journal of neuromuscular diseases, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 15 citations in OpenAlex.
- CaMKIIβ Signaling drives expression of metabolic and stress response genes in skeletal muscle, and its loss contributes to the LGMDR1 phenotype.Human molecular genetics · 2026Article
- Predicting Loss of Ambulation in Limb Girdle Muscular Dystrophy R9.Annals of clinical and translational neurology · 2026Observational
- Limb-Girdle Muscular Dystrophy Type 2B and Morbihan Disease: A Case Report With an Atypical Presentation.Cureus · 2025Article
- Health-Related Quality-of-Life Outcomes in Patients with Recessive and Dominant LGMD: A Comparative Cross-Sectional Study.Muscles (Basel, Switzerland) · 2025Article
- Clinical Trial Readiness in Limb Girdle Muscular Dystrophy R1 (LGMDR1): A GRASP Consortium Study.Annals of clinical and translational neurology · 2025Article
- Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 10 (LGMD,10), Caused by a Novel Homozygous Variant in the TTN Gene.International medical case reports journal · 2025Article
- Review
- Article
- Pain interference and fatigue in limb-girdle muscular dystrophy R9.Neuromuscular disorders : NMD · 2023Article
- Mild limb girdle muscular dystrophy R9 phenotype caused by novel compound heterozygous FKRP gene mutation.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2023Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
BackgroundThe impact of age at autosomal recessive limb girdle muscular dystrophy (LGMDR) onset on progression to loss of ambulation (LOA) has not been well established, particularly by subtype.
objectivesTo describe the characteristics of patients with adult-, late childhood-, and early childhood-onset LGMDR by subtype and characterize the frequency and timing of LOA.
methodsA systematic review was conducted in MEDLINE, Embase and the Cochrane library. Frequency and timing of LOA in patients with LGMDR1, LGMDR2/Miyoshi myopathy (MM), LGMDR3-6, LGMDR9, and LGMDR12 were synthesized from published data.
resultsIn 195 studies, 695 (43.4%) patients had adult-, 532 (33.2%) had late childhood-, and 376 (23.5%) had early childhood-onset of disease across subtypes among those with a reported age at onset (n = 1,603); distribution of age at onset varied between subtypes. Among patients with LOA (n = 228), adult-onset disease was uncommon in LGMDR3-6 (14%) and frequent in LGMDR2/MM (42%); LGMDR3-6 cases with LOA primarily had early childhood-onset (74%). Mean (standard deviation [SD]) time to LOA varied between subtypes and was shortest for patients with early childhood-onset LGMDR9 (12.0 [4.9] years, n = 19) and LGMDR3-6 (12.3 [10.7], n = 56) and longest for those with late childhood-onset LGMDR2/MM (21.4 [11.5], n = 36).
conclusionsThis review illustrated that patients with early childhood-onset disease tend to have faster progression to LOA than those with late childhood- or adult-onset disease, particularly in LGMDR9. These findings provide a greater understanding of progression to LOA by LGMDR subtype, which may help inform clinical trial design and provide a basis for natural history studies.
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