GuidelineNeurology2014
Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies [RETIRED]: report of the guideline development subcommittee of the American Academy of Neurology and the practice issues review panel of the American Association of Neuromuscular & Electrodiagnostic Medicine.
2 registry-linked trialsOpen access · bronzeAbstract readPractice Guideline
In one paragraph
Guideline in Neurology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 2 registered trials, which are not on this map. Cited by 87 papers, 3 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
87citing papers in PubMed, 3 pooled it
10.8field-weighted citation impact, top 1% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Is Telerehabilitation as Effective as the Traditional Hospital-based Rehabilitation in Patients With Proximal Muscle Weakness? - A Randomized Controlled Study
Convenient Quantification of Myopathic Change in Muscle Via Electrical Impedance Myography
Who cites it
87 citing papers in PubMed, 3 syntheses or guidelines pooled it, 228 citations in OpenAlex.
- Effectiveness of conservative non-pharmacological interventions in people with muscular dystrophies: a systematic review and meta-analysis.Journal of neurology, neurosurgery, and psychiatry · 2024Pooled it
- Effect of Muscular Exercise on Patients With Muscular Dystrophy: A Systematic Review and Meta-Analysis of the Literature.Frontiers in neurology · 2020Pooled it
- Guideline
- Myxovirus Resistance A Protein Expression in Idiopathic Inflammatory Myopathies and Hereditary Muscle Diseases with Inflammatory Cell Infiltration: A North African Study.International journal of molecular sciences · 2026Article
- Limb-girdle muscular dystrophy type R2 manifesting as fetal growth restriction in a woman with two pregnancies: a case report.Gynecology and pelvic medicine · 2026Article
- Amyotrophic Lateral Sclerosis Clinical Research Site Operations: Emerging Challenges and Potential Solutions From Multiple Sites in the US.Muscle & nerve · 2026Article
- Integrative Transcriptomic and Network-Based Analysis of Neuromuscular Diseases.International journal of molecular sciences · 2025Article
- Calpainopathy (limb-girdle muscular dystrophy type R1): clinical features, diagnostic approaches, and biotechnological treatment methods.Journal of neuromuscular diseases · 2025Review
- Article
- Whole-exome sequencing identifies TRIM72 as a candidate gene for autosomal recessive limb-girdle muscular dystrophy.Human genomics · 2025Article
- Sarcoglycanopathies: From clinical diagnosis to new promising therapies.Journal of neuromuscular diseases · 2025Review
- Expert Perspective: Diagnostic Approach to Differentiating Juvenile Dermatomyositis From Muscular Dystrophy.Arthritis & rheumatology (Hoboken, N.J.) · 2025Article
- Limb-Girdle Muscular Dystrophies (LGMD): Clinical features, diagnosis and genetic variability through next generation sequencing.Global medical genetics · 2025Article
- Limb-girdle muscular dystrophies: A scoping review and overview of currently available rehabilitation strategies.Muscle & nerve · 2025Article
- Outcomes of cerebrovascular disease in muscular dystrophies: A propensity-matched nationwide analysis.European journal of neurology · 2025Article
- HeartMate 3 Left Ventricular Assist Device Implantation in a Pediatric Patient With Limb-Girdle Muscular Dystrophy.Ochsner journal · 2025Article
- Muscular Dystrophies.Advances in experimental medicine and biology · 2025Review
- Adult late-onset limb-girdle muscular dystrophy R1/2A complicated by parathyroid adenoma and sick sinus syndrome: a case report and literature review.BMC musculoskeletal disorders · 2024Review
- Much More Than a Stroke: Emery-Dreifuss Muscular Dystrophy Type 2 Revealed by Ischemic Stroke.Cureus · 2024Article
- Review
27 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
14 authors at 4 institutions in 1 country.
Pushpa NarayanaswamiFrom the Department of Neurology (P.N., E.R.), Beth Israel Deaconess Medical Center/Harvard Medical School, Boston, MA; the Department of Neurology (M.W.), University of Washington Medical Center, Seattle; the Department of Neurology (D.S.), Mayo Clinic, Rochester, MN; the Department of Neurology (W.D.), Massachusetts General Hospital/Harvard Medical School, Boston; St Luke's Rehabilitation Institute (G.C.), Spokane, WA; the Department of Neurology (M.W.), Penn State Hershey Medical Center, PA; the Department of Neurology (R.J.B., G.G.), University of Kansas Medical Center, Kansas City; the Neuromuscular Center (E.E.), Boston VA Medical Center, MA; the Department of Neurology (R.C.G.), University of Rochester Medical Center, NY; and the Department of Neurology (E.E., A.A.A.), Brigham and Women's Hospital/Harvard Medical School, Boston, MA.
Michael WeissFrom the Department of Neurology (P.N., E.R.), Beth Israel Deaconess Medical Center/Harvard Medical School, Boston, MA; the Department of Neurology (M.W.), University of Washington Medical Center, Seattle; the Department of Neurology (D.S.), Mayo Clinic, Rochester, MN; the Department of Neurology (W.D.), Massachusetts General Hospital/Harvard Medical School, Boston; St Luke's Rehabilitation Institute (G.C.), Spokane, WA; the Department of Neurology (M.W.), Penn State Hershey Medical Center, PA; the Department of Neurology (R.J.B., G.G.), University of Kansas Medical Center, Kansas City; the Neuromuscular Center (E.E.), Boston VA Medical Center, MA; the Department of Neurology (R.C.G.), University of Rochester Medical Center, NY; and the Department of Neurology (E.E., A.A.A.), Brigham and Women's Hospital/Harvard Medical School, Boston, MA.
Duygu SelcenFrom the Department of Neurology (P.N., E.R.), Beth Israel Deaconess Medical Center/Harvard Medical School, Boston, MA; the Department of Neurology (M.W.), University of Washington Medical Center, Seattle; the Department of Neurology (D.S.), Mayo Clinic, Rochester, MN; the Department of Neurology (W.D.), Massachusetts General Hospital/Harvard Medical School, Boston; St Luke's Rehabilitation Institute (G.C.), Spokane, WA; the Department of Neurology (M.W.), Penn State Hershey Medical Center, PA; the Department of Neurology (R.J.B., G.G.), University of Kansas Medical Center, Kansas City; the Neuromuscular Center (E.E.), Boston VA Medical Center, MA; the Department of Neurology (R.C.G.), University of Rochester Medical Center, NY; and the Department of Neurology (E.E., A.A.A.), Brigham and Women's Hospital/Harvard Medical School, Boston, MA.
William DavidFrom the Department of Neurology (P.N., E.R.), Beth Israel Deaconess Medical Center/Harvard Medical School, Boston, MA; the Department of Neurology (M.W.), University of Washington Medical Center, Seattle; the Department of Neurology (D.S.), Mayo Clinic, Rochester, MN; the Department of Neurology (W.D.), Massachusetts General Hospital/Harvard Medical School, Boston; St Luke's Rehabilitation Institute (G.C.), Spokane, WA; the Department of Neurology (M.W.), Penn State Hershey Medical Center, PA; the Department of Neurology (R.J.B., G.G.), University of Kansas Medical Center, Kansas City; the Neuromuscular Center (E.E.), Boston VA Medical Center, MA; the Department of Neurology (R.C.G.), University of Rochester Medical Center, NY; and the Department of Neurology (E.E., A.A.A.), Brigham and Women's Hospital/Harvard Medical School, Boston, MA.
Elizabeth RaynorFrom the Department of Neurology (P.N., E.R.), Beth Israel Deaconess Medical Center/Harvard Medical School, Boston, MA; the Department of Neurology (M.W.), University of Washington Medical Center, Seattle; the Department of Neurology (D.S.), Mayo Clinic, Rochester, MN; the Department of Neurology (W.D.), Massachusetts General Hospital/Harvard Medical School, Boston; St Luke's Rehabilitation Institute (G.C.), Spokane, WA; the Department of Neurology (M.W.), Penn State Hershey Medical Center, PA; the Department of Neurology (R.J.B., G.G.), University of Kansas Medical Center, Kansas City; the Neuromuscular Center (E.E.), Boston VA Medical Center, MA; the Department of Neurology (R.C.G.), University of Rochester Medical Center, NY; and the Department of Neurology (E.E., A.A.A.), Brigham and Women's Hospital/Harvard Medical School, Boston, MA.
Gregory CarterFrom the Department of Neurology (P.N., E.R.), Beth Israel Deaconess Medical Center/Harvard Medical School, Boston, MA; the Department of Neurology (M.W.), University of Washington Medical Center, Seattle; the Department of Neurology (D.S.), Mayo Clinic, Rochester, MN; the Department of Neurology (W.D.), Massachusetts General Hospital/Harvard Medical School, Boston; St Luke's Rehabilitation Institute (G.C.), Spokane, WA; the Department of Neurology (M.W.), Penn State Hershey Medical Center, PA; the Department of Neurology (R.J.B., G.G.), University of Kansas Medical Center, Kansas City; the Neuromuscular Center (E.E.), Boston VA Medical Center, MA; the Department of Neurology (R.C.G.), University of Rochester Medical Center, NY; and the Department of Neurology (E.E., A.A.A.), Brigham and Women's Hospital/Harvard Medical School, Boston, MA.
Matthew WicklundFrom the Department of Neurology (P.N., E.R.), Beth Israel Deaconess Medical Center/Harvard Medical School, Boston, MA; the Department of Neurology (M.W.), University of Washington Medical Center, Seattle; the Department of Neurology (D.S.), Mayo Clinic, Rochester, MN; the Department of Neurology (W.D.), Massachusetts General Hospital/Harvard Medical School, Boston; St Luke's Rehabilitation Institute (G.C.), Spokane, WA; the Department of Neurology (M.W.), Penn State Hershey Medical Center, PA; the Department of Neurology (R.J.B., G.G.), University of Kansas Medical Center, Kansas City; the Neuromuscular Center (E.E.), Boston VA Medical Center, MA; the Department of Neurology (R.C.G.), University of Rochester Medical Center, NY; and the Department of Neurology (E.E., A.A.A.), Brigham and Women's Hospital/Harvard Medical School, Boston, MA.
Richard J BarohnFrom the Department of Neurology (P.N., E.R.), Beth Israel Deaconess Medical Center/Harvard Medical School, Boston, MA; the Department of Neurology (M.W.), University of Washington Medical Center, Seattle; the Department of Neurology (D.S.), Mayo Clinic, Rochester, MN; the Department of Neurology (W.D.), Massachusetts General Hospital/Harvard Medical School, Boston; St Luke's Rehabilitation Institute (G.C.), Spokane, WA; the Department of Neurology (M.W.), Penn State Hershey Medical Center, PA; the Department of Neurology (R.J.B., G.G.), University of Kansas Medical Center, Kansas City; the Neuromuscular Center (E.E.), Boston VA Medical Center, MA; the Department of Neurology (R.C.G.), University of Rochester Medical Center, NY; and the Department of Neurology (E.E., A.A.A.), Brigham and Women's Hospital/Harvard Medical School, Boston, MA.
Erik EnsrudFrom the Department of Neurology (P.N., E.R.), Beth Israel Deaconess Medical Center/Harvard Medical School, Boston, MA; the Department of Neurology (M.W.), University of Washington Medical Center, Seattle; the Department of Neurology (D.S.), Mayo Clinic, Rochester, MN; the Department of Neurology (W.D.), Massachusetts General Hospital/Harvard Medical School, Boston; St Luke's Rehabilitation Institute (G.C.), Spokane, WA; the Department of Neurology (M.W.), Penn State Hershey Medical Center, PA; the Department of Neurology (R.J.B., G.G.), University of Kansas Medical Center, Kansas City; the Neuromuscular Center (E.E.), Boston VA Medical Center, MA; the Department of Neurology (R.C.G.), University of Rochester Medical Center, NY; and the Department of Neurology (E.E., A.A.A.), Brigham and Women's Hospital/Harvard Medical School, Boston, MA.
Robert C GriggsFrom the Department of Neurology (P.N., E.R.), Beth Israel Deaconess Medical Center/Harvard Medical School, Boston, MA; the Department of Neurology (M.W.), University of Washington Medical Center, Seattle; the Department of Neurology (D.S.), Mayo Clinic, Rochester, MN; the Department of Neurology (W.D.), Massachusetts General Hospital/Harvard Medical School, Boston; St Luke's Rehabilitation Institute (G.C.), Spokane, WA; the Department of Neurology (M.W.), Penn State Hershey Medical Center, PA; the Department of Neurology (R.J.B., G.G.), University of Kansas Medical Center, Kansas City; the Neuromuscular Center (E.E.), Boston VA Medical Center, MA; the Department of Neurology (R.C.G.), University of Rochester Medical Center, NY; and the Department of Neurology (E.E., A.A.A.), Brigham and Women's Hospital/Harvard Medical School, Boston, MA.
Gary GronsethFrom the Department of Neurology (P.N., E.R.), Beth Israel Deaconess Medical Center/Harvard Medical School, Boston, MA; the Department of Neurology (M.W.), University of Washington Medical Center, Seattle; the Department of Neurology (D.S.), Mayo Clinic, Rochester, MN; the Department of Neurology (W.D.), Massachusetts General Hospital/Harvard Medical School, Boston; St Luke's Rehabilitation Institute (G.C.), Spokane, WA; the Department of Neurology (M.W.), Penn State Hershey Medical Center, PA; the Department of Neurology (R.J.B., G.G.), University of Kansas Medical Center, Kansas City; the Neuromuscular Center (E.E.), Boston VA Medical Center, MA; the Department of Neurology (R.C.G.), University of Rochester Medical Center, NY; and the Department of Neurology (E.E., A.A.A.), Brigham and Women's Hospital/Harvard Medical School, Boston, MA.
Anthony A AmatoFrom the Department of Neurology (P.N., E.R.), Beth Israel Deaconess Medical Center/Harvard Medical School, Boston, MA; the Department of Neurology (M.W.), University of Washington Medical Center, Seattle; the Department of Neurology (D.S.), Mayo Clinic, Rochester, MN; the Department of Neurology (W.D.), Massachusetts General Hospital/Harvard Medical School, Boston; St Luke's Rehabilitation Institute (G.C.), Spokane, WA; the Department of Neurology (M.W.), Penn State Hershey Medical Center, PA; the Department of Neurology (R.J.B., G.G.), University of Kansas Medical Center, Kansas City; the Neuromuscular Center (E.E.), Boston VA Medical Center, MA; the Department of Neurology (R.C.G.), University of Rochester Medical Center, NY; and the Department of Neurology (E.E., A.A.A.), Brigham and Women's Hospital/Harvard Medical School, Boston, MA.
Guideline Development Subcommittee of the American Academy of Neurology
Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine
University of Kansas Medical Center · USPenn State Milton S. Hershey Medical Center · USUniversity of Rochester Medical Center · USHarvard University · US
Funding
NCBDD CDC HHS DD10-1012
Abstract
objectiveTo review the current evidence and make practice recommendations regarding the diagnosis and treatment of limb-girdle muscular dystrophies (LGMDs).
methodsSystematic review and practice recommendation development using the American Academy of Neurology guideline development process.
resultsMost LGMDs are rare, with estimated prevalences ranging from 0.07 per 100,000 to 0.43 per 100,000. The frequency of some muscular dystrophies varies based on the ethnic background of the population studied. Some LGMD subtypes have distinguishing features, including pattern of muscle involvement, cardiac abnormalities, extramuscular involvement, and muscle biopsy findings. The few published therapeutic trials were not designed to establish clinical efficacy of any treatment. PRINCIPAL RECOMMENDATIONS: For patients with suspected muscular dystrophy, clinicians should use a clinical approach to guide genetic diagnosis based on clinical phenotype, inheritance pattern, and associated manifestations (Level B). Clinicians should refer newly diagnosed patients with an LGMD subtype and high risk of cardiac complications for cardiology evaluation even if they are asymptomatic from a cardiac standpoint (Level B). In patients with LGMD with a known high risk of respiratory failure, clinicians should obtain periodic pulmonary function testing (Level B). Clinicians should refer patients with muscular dystrophy to a clinic that has access to multiple specialties designed specifically to care for patients with neuromuscular disorders (Level B). Clinicians should not offer patients with LGMD gene therapy, myoblast transplantation, neutralizing antibody to myostatin, or growth hormone outside of a research study designed to determine efficacy and safety of the treatment (Level R). Detailed results and recommendations are available on the Neurology® Web site at Neurology.org.
Indexed as
Diagnosis, DifferentialEvidence-Based MedicineHumansMuscular DystrophiesMuscular Dystrophies, Limb-Girdle
Identifiers
What OpenQuestion holds
Textmetadata
Read underepoch 390
Registered trials
NCT04392518ClinicalTrials.gov
NCT07502989ClinicalTrials.gov
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.