{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T20:14:46Z","timestamp":1790799286649,"version":"4.1.0"},"reference-count":204,"publisher":"SAGE Publications","issue":"4","license":[{"start":{"date-parts":[[2022,7,1]],"date-time":"2022-07-01T00:00:00Z","timestamp":1656633600000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JND"],"published-print":{"date-parts":[[2022,7,1]]},"abstract":"<jats:p>Background The 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. Objectives: To describe the characteristics of patients with adult-, late childhood-, and early childhood-onset LGMDR by subtype and characterize the frequency and timing of LOA. Methods: A 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. Results: In 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\u200a=\u200a1,603); distribution of age at onset varied between subtypes. Among patients with LOA (n\u200a=\u200a228), 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\u200a=\u200a19) and LGMDR3-6 (12.3 [10.7], n\u200a=\u200a56) and longest for those with late childhood-onset LGMDR2\/MM (21.4 [11.5], n\u200a=\u200a36). Conclusions: This 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.<\/jats:p>","DOI":"10.3233\/jnd-210771","type":"journal-article","created":{"date-parts":[[2022,5,6]],"date-time":"2022-05-06T11:25:53Z","timestamp":1651836353000},"page":"477-492","source":"Crossref","is-referenced-by-count":18,"title":["Progression to Loss of Ambulation Among Patients with Autosomal Recessive Limb-girdle Muscular Dystrophy: A Systematic Review"],"prefix":"10.1177","volume":"9","author":[{"given":"Ivana F.","family":"Audhya","sequence":"first","affiliation":[{"name":"Sarepta Therapeutics Inc, Cambridge MA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antoinette","family":"Cheung","sequence":"additional","affiliation":[{"name":"Broadstreet HEOR, Vancouver, BC, V6A 1A4 Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shelagh M.","family":"Szabo","sequence":"additional","affiliation":[{"name":"Broadstreet HEOR, Vancouver, BC, V6A 1A4 Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emma","family":"Flint","sequence":"additional","affiliation":[{"name":"Broadstreet HEOR, Vancouver, BC, V6A 1A4 Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Conrad C.","family":"Weihl","sequence":"additional","affiliation":[{"name":"Washington University School of Medicine, St. Louis, MO, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherine L.","family":"Gooch","sequence":"additional","affiliation":[{"name":"Sarepta Therapeutics Inc, Cambridge MA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","reference":[{"issue":"1","key":"10.3233\/JND-210771_ref1","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1016\/j.nmd.2007.08.009","article-title":"Limb-girdle muscular dystrophy: Diagnostic evaluation, frequency and clues to pathogenesis","volume":"18","author":"Lo","year":"2008","journal-title":"Neuromuscular Disorders"},{"issue":"4","key":"10.3233\/JND-210771_ref2","doi-asserted-by":"crossref","first-page":"849","DOI":"10.1007\/s13311-018-0648-x","article-title":"The Limb-Girdle Muscular Dystrophies: Is Treatment on the Horizon?","volume":"15","author":"Chu","year":"2018","journal-title":"Neurotherapeutics"},{"issue":"6","key":"10.3233\/JND-210771_ref3","doi-asserted-by":"crossref","first-page":"7874","DOI":"10.1002\/jcp.27907","article-title":"Prevalence, pathological mechanisms, and genetic basis of limb-girdle muscular dystrophies: A review","volume":"234","author":"Taghizadeh","year":"2019","journal-title":"J Cell Physiol"},{"issue":"1","key":"10.3233\/JND-210771_ref4","first-page":"1","article-title":"Genetic basis of limb-girdle muscular dystrophies: The update","volume":"33","author":"Nigro","year":"2014","journal-title":"Acta Myol"},{"key":"10.3233\/JND-210771_ref5","first-page":"1954","article-title":"The Limb-Girdle Muscular Dystrophies and the Dystrophinopathies","volume":"22","author":"Iyadurai","year":"2016","journal-title":"Continuum (Minneap Minn)"},{"issue":"5","key":"10.3233\/JND-210771_ref6","doi-asserted-by":"crossref","first-page":"1515","DOI":"10.3892\/mmr.2014.2048","article-title":"Limb-girdle muscular dystrophies: Where next after six decades from the first proposal (Review)","volume":"9","author":"Mahmood","year":"2014","journal-title":"Molecular Medicine Reports"},{"issue":"1","key":"10.3233\/JND-210771_ref7","first-page":"3","article-title":"Muscle exercise in limb girdle muscular dystrophies: Pitfall and advantages","volume":"34","author":"Siciliano","year":"2015","journal-title":"Acta Myologica"},{"issue":"9","key":"10.3233\/JND-210771_ref8","doi-asserted-by":"crossref","first-page":"2696","DOI":"10.1093\/brain\/awaa228","article-title":"New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy","volume":"143","author":"Alonso-P\u00e9rez","year":"2020","journal-title":"Brain"},{"issue":"4","key":"10.3233\/JND-210771_ref9","first-page":"207","article-title":"LGMD. 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