Evidence map›Paper›PMID 25825463›Full record

GuidelineNeurology2015

Evidence-based guideline summary: evaluation, diagnosis, and management of congenital muscular dystrophy: 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.

Peter B Kang, Leslie Morrison, Susan T Iannaccone, Robert J Graham, Carsten G Bönnemann, Anne Rutkowski, Joseph Hornyak, Ching H Wang, Kathryn North, Maryam Oskoui and 6 more

2 registry-linked trialsOpen access · bronzeAbstract readPractice Guideline
PubMed Full text at PMC Publisher
In one paragraph

Guideline in Neurology, 2015. 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 40 papers, 4 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
40citing papers in PubMed, 4 pooled it
6.3field-weighted citation impact, top 3% of its field
1 · What the graph read from it

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.

2 · The registry

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.

NCT05022355 completednot on this mapstarted 2021, after this paper: background citation

The Comparison of the Effects of Scapulothoracic Arthrodesis Surgery Versus Usual Care on Balance and Gait Parameters in Patients With Fascioscapulohumeral Dystrophy: One-Blind Study

TypeobservationalSponsorIstanbul University - CerrahpasaRan2021 to 2022Enrolled24ConditionsFacio-Scapulo-Humeral Dystrophy
NCT05178706 completednot on this mapstarted 2022, after this paper: background citation

Does the Upper Extremity Rehabilitation Program Implemented on Individuals With Facioscapulohumeral Dystrophy, Followed by Various Interventions, Have an Impact on Function, Balance, and Gait?

TypeobservationalSponsorIstanbul University - CerrahpasaRan2022 to 2022Enrolled36ConditionsFacioscapulohumeral Muscular DystrophyArmsupper extremity rehabilitation program, Results of assessment
3 · Its place in the literature

Who cites it

40 citing papers in PubMed, 4 syntheses or guidelines pooled it, 109 citations in OpenAlex.

  1. Pooled it
  2. Guideline
  3. Pooled it
  4. Guideline
  5. Trial
  6. Trial
  7. Trial
  8. Article
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  11. Benchmarking RNA-seq Tools for Real-World Diagnostic Applications.medRxiv : the preprint server for health sciences · 2026
    Article
  12. Article
  13. Article
  14. Review
  15. Article
  16. The congenital muscular dystrophies.Annals of the Child Neurology Society · 2024
    Review
  17. Article
  18. Article
  19. Article
  20. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

16 authors at 4 institutions in 1 country.

Peter B KangFrom the Division of Pediatric Neurology (P.B.K.), University of Florida College of Medicine, Gainesville; Department of Neurology (P.B.K.), Boston Children's Hospital and Harvard Medical School, Boston, MA; Department of Neurology (L.M.), University of New Mexico, Albuquerque; Departments of Pediatrics and Neurology & Neurotherapeutics (S.T.I.), University of Texas Southwestern Medical Center, and Children's Medical Center, Dallas; Division of Critical Care Medicine (R.J.G.), Boston Children's Hospital, and Department of Anaesthesia, Harvard Medical School, Boston; Neuromuscular and Neurogenetic Disorders of Childhood Section (C.G.B.), Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Cure Congenital Muscular Dystrophy (Cure CMD) (A.R.), Olathe, KS; Department of Emergency Medicine (A.R.), Kaiser Permanente South Bay Medical Center, Harbor City, CA; Department of Physical Medicine & Rehabilitation (J.H.), University of Michigan, Ann Arbor; Departments of Neurology and Pediatrics (C.H.W.), School of Medicine, Stanford University, CA; Department of Neurology (C.H.W.), Driscoll Children's Hospital, Corpus Christi, TX; Murdoch Childrens Research Institute (K.N.), The Royal Children's Hospital, and University of Melbourne, Australia; Neurology & Neurosurgery (M.O.), McGill University, Montréal, Canada; Center for Health Policy (T.S.D.G., J.A.C., E.E.H.), American Academy of Neurology, Minneapolis, MN; Department of Neurology (G.G.), University of Kansas School of Medicine, Kansas City; and Department of Neurology (R.C.G.), University of Rochester Medical Center, NY.
Leslie MorrisonFrom the Division of Pediatric Neurology (P.B.K.), University of Florida College of Medicine, Gainesville; Department of Neurology (P.B.K.), Boston Children's Hospital and Harvard Medical School, Boston, MA; Department of Neurology (L.M.), University of New Mexico, Albuquerque; Departments of Pediatrics and Neurology & Neurotherapeutics (S.T.I.), University of Texas Southwestern Medical Center, and Children's Medical Center, Dallas; Division of Critical Care Medicine (R.J.G.), Boston Children's Hospital, and Department of Anaesthesia, Harvard Medical School, Boston; Neuromuscular and Neurogenetic Disorders of Childhood Section (C.G.B.), Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Cure Congenital Muscular Dystrophy (Cure CMD) (A.R.), Olathe, KS; Department of Emergency Medicine (A.R.), Kaiser Permanente South Bay Medical Center, Harbor City, CA; Department of Physical Medicine & Rehabilitation (J.H.), University of Michigan, Ann Arbor; Departments of Neurology and Pediatrics (C.H.W.), School of Medicine, Stanford University, CA; Department of Neurology (C.H.W.), Driscoll Children's Hospital, Corpus Christi, TX; Murdoch Childrens Research Institute (K.N.), The Royal Children's Hospital, and University of Melbourne, Australia; Neurology & Neurosurgery (M.O.), McGill University, Montréal, Canada; Center for Health Policy (T.S.D.G., J.A.C., E.E.H.), American Academy of Neurology, Minneapolis, MN; Department of Neurology (G.G.), University of Kansas School of Medicine, Kansas City; and Department of Neurology (R.C.G.), University of Rochester Medical Center, NY.
Susan T IannacconeFrom the Division of Pediatric Neurology (P.B.K.), University of Florida College of Medicine, Gainesville; Department of Neurology (P.B.K.), Boston Children's Hospital and Harvard Medical School, Boston, MA; Department of Neurology (L.M.), University of New Mexico, Albuquerque; Departments of Pediatrics and Neurology & Neurotherapeutics (S.T.I.), University of Texas Southwestern Medical Center, and Children's Medical Center, Dallas; Division of Critical Care Medicine (R.J.G.), Boston Children's Hospital, and Department of Anaesthesia, Harvard Medical School, Boston; Neuromuscular and Neurogenetic Disorders of Childhood Section (C.G.B.), Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Cure Congenital Muscular Dystrophy (Cure CMD) (A.R.), Olathe, KS; Department of Emergency Medicine (A.R.), Kaiser Permanente South Bay Medical Center, Harbor City, CA; Department of Physical Medicine & Rehabilitation (J.H.), University of Michigan, Ann Arbor; Departments of Neurology and Pediatrics (C.H.W.), School of Medicine, Stanford University, CA; Department of Neurology (C.H.W.), Driscoll Children's Hospital, Corpus Christi, TX; Murdoch Childrens Research Institute (K.N.), The Royal Children's Hospital, and University of Melbourne, Australia; Neurology & Neurosurgery (M.O.), McGill University, Montréal, Canada; Center for Health Policy (T.S.D.G., J.A.C., E.E.H.), American Academy of Neurology, Minneapolis, MN; Department of Neurology (G.G.), University of Kansas School of Medicine, Kansas City; and Department of Neurology (R.C.G.), University of Rochester Medical Center, NY.
Robert J GrahamFrom the Division of Pediatric Neurology (P.B.K.), University of Florida College of Medicine, Gainesville; Department of Neurology (P.B.K.), Boston Children's Hospital and Harvard Medical School, Boston, MA; Department of Neurology (L.M.), University of New Mexico, Albuquerque; Departments of Pediatrics and Neurology & Neurotherapeutics (S.T.I.), University of Texas Southwestern Medical Center, and Children's Medical Center, Dallas; Division of Critical Care Medicine (R.J.G.), Boston Children's Hospital, and Department of Anaesthesia, Harvard Medical School, Boston; Neuromuscular and Neurogenetic Disorders of Childhood Section (C.G.B.), Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Cure Congenital Muscular Dystrophy (Cure CMD) (A.R.), Olathe, KS; Department of Emergency Medicine (A.R.), Kaiser Permanente South Bay Medical Center, Harbor City, CA; Department of Physical Medicine & Rehabilitation (J.H.), University of Michigan, Ann Arbor; Departments of Neurology and Pediatrics (C.H.W.), School of Medicine, Stanford University, CA; Department of Neurology (C.H.W.), Driscoll Children's Hospital, Corpus Christi, TX; Murdoch Childrens Research Institute (K.N.), The Royal Children's Hospital, and University of Melbourne, Australia; Neurology & Neurosurgery (M.O.), McGill University, Montréal, Canada; Center for Health Policy (T.S.D.G., J.A.C., E.E.H.), American Academy of Neurology, Minneapolis, MN; Department of Neurology (G.G.), University of Kansas School of Medicine, Kansas City; and Department of Neurology (R.C.G.), University of Rochester Medical Center, NY.
Carsten G BönnemannFrom the Division of Pediatric Neurology (P.B.K.), University of Florida College of Medicine, Gainesville; Department of Neurology (P.B.K.), Boston Children's Hospital and Harvard Medical School, Boston, MA; Department of Neurology (L.M.), University of New Mexico, Albuquerque; Departments of Pediatrics and Neurology & Neurotherapeutics (S.T.I.), University of Texas Southwestern Medical Center, and Children's Medical Center, Dallas; Division of Critical Care Medicine (R.J.G.), Boston Children's Hospital, and Department of Anaesthesia, Harvard Medical School, Boston; Neuromuscular and Neurogenetic Disorders of Childhood Section (C.G.B.), Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Cure Congenital Muscular Dystrophy (Cure CMD) (A.R.), Olathe, KS; Department of Emergency Medicine (A.R.), Kaiser Permanente South Bay Medical Center, Harbor City, CA; Department of Physical Medicine & Rehabilitation (J.H.), University of Michigan, Ann Arbor; Departments of Neurology and Pediatrics (C.H.W.), School of Medicine, Stanford University, CA; Department of Neurology (C.H.W.), Driscoll Children's Hospital, Corpus Christi, TX; Murdoch Childrens Research Institute (K.N.), The Royal Children's Hospital, and University of Melbourne, Australia; Neurology & Neurosurgery (M.O.), McGill University, Montréal, Canada; Center for Health Policy (T.S.D.G., J.A.C., E.E.H.), American Academy of Neurology, Minneapolis, MN; Department of Neurology (G.G.), University of Kansas School of Medicine, Kansas City; and Department of Neurology (R.C.G.), University of Rochester Medical Center, NY.
Anne RutkowskiFrom the Division of Pediatric Neurology (P.B.K.), University of Florida College of Medicine, Gainesville; Department of Neurology (P.B.K.), Boston Children's Hospital and Harvard Medical School, Boston, MA; Department of Neurology (L.M.), University of New Mexico, Albuquerque; Departments of Pediatrics and Neurology & Neurotherapeutics (S.T.I.), University of Texas Southwestern Medical Center, and Children's Medical Center, Dallas; Division of Critical Care Medicine (R.J.G.), Boston Children's Hospital, and Department of Anaesthesia, Harvard Medical School, Boston; Neuromuscular and Neurogenetic Disorders of Childhood Section (C.G.B.), Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Cure Congenital Muscular Dystrophy (Cure CMD) (A.R.), Olathe, KS; Department of Emergency Medicine (A.R.), Kaiser Permanente South Bay Medical Center, Harbor City, CA; Department of Physical Medicine & Rehabilitation (J.H.), University of Michigan, Ann Arbor; Departments of Neurology and Pediatrics (C.H.W.), School of Medicine, Stanford University, CA; Department of Neurology (C.H.W.), Driscoll Children's Hospital, Corpus Christi, TX; Murdoch Childrens Research Institute (K.N.), The Royal Children's Hospital, and University of Melbourne, Australia; Neurology & Neurosurgery (M.O.), McGill University, Montréal, Canada; Center for Health Policy (T.S.D.G., J.A.C., E.E.H.), American Academy of Neurology, Minneapolis, MN; Department of Neurology (G.G.), University of Kansas School of Medicine, Kansas City; and Department of Neurology (R.C.G.), University of Rochester Medical Center, NY.
Joseph HornyakFrom the Division of Pediatric Neurology (P.B.K.), University of Florida College of Medicine, Gainesville; Department of Neurology (P.B.K.), Boston Children's Hospital and Harvard Medical School, Boston, MA; Department of Neurology (L.M.), University of New Mexico, Albuquerque; Departments of Pediatrics and Neurology & Neurotherapeutics (S.T.I.), University of Texas Southwestern Medical Center, and Children's Medical Center, Dallas; Division of Critical Care Medicine (R.J.G.), Boston Children's Hospital, and Department of Anaesthesia, Harvard Medical School, Boston; Neuromuscular and Neurogenetic Disorders of Childhood Section (C.G.B.), Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Cure Congenital Muscular Dystrophy (Cure CMD) (A.R.), Olathe, KS; Department of Emergency Medicine (A.R.), Kaiser Permanente South Bay Medical Center, Harbor City, CA; Department of Physical Medicine & Rehabilitation (J.H.), University of Michigan, Ann Arbor; Departments of Neurology and Pediatrics (C.H.W.), School of Medicine, Stanford University, CA; Department of Neurology (C.H.W.), Driscoll Children's Hospital, Corpus Christi, TX; Murdoch Childrens Research Institute (K.N.), The Royal Children's Hospital, and University of Melbourne, Australia; Neurology & Neurosurgery (M.O.), McGill University, Montréal, Canada; Center for Health Policy (T.S.D.G., J.A.C., E.E.H.), American Academy of Neurology, Minneapolis, MN; Department of Neurology (G.G.), University of Kansas School of Medicine, Kansas City; and Department of Neurology (R.C.G.), University of Rochester Medical Center, NY.
Ching H WangFrom the Division of Pediatric Neurology (P.B.K.), University of Florida College of Medicine, Gainesville; Department of Neurology (P.B.K.), Boston Children's Hospital and Harvard Medical School, Boston, MA; Department of Neurology (L.M.), University of New Mexico, Albuquerque; Departments of Pediatrics and Neurology & Neurotherapeutics (S.T.I.), University of Texas Southwestern Medical Center, and Children's Medical Center, Dallas; Division of Critical Care Medicine (R.J.G.), Boston Children's Hospital, and Department of Anaesthesia, Harvard Medical School, Boston; Neuromuscular and Neurogenetic Disorders of Childhood Section (C.G.B.), Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Cure Congenital Muscular Dystrophy (Cure CMD) (A.R.), Olathe, KS; Department of Emergency Medicine (A.R.), Kaiser Permanente South Bay Medical Center, Harbor City, CA; Department of Physical Medicine & Rehabilitation (J.H.), University of Michigan, Ann Arbor; Departments of Neurology and Pediatrics (C.H.W.), School of Medicine, Stanford University, CA; Department of Neurology (C.H.W.), Driscoll Children's Hospital, Corpus Christi, TX; Murdoch Childrens Research Institute (K.N.), The Royal Children's Hospital, and University of Melbourne, Australia; Neurology & Neurosurgery (M.O.), McGill University, Montréal, Canada; Center for Health Policy (T.S.D.G., J.A.C., E.E.H.), American Academy of Neurology, Minneapolis, MN; Department of Neurology (G.G.), University of Kansas School of Medicine, Kansas City; and Department of Neurology (R.C.G.), University of Rochester Medical Center, NY.
Kathryn NorthFrom the Division of Pediatric Neurology (P.B.K.), University of Florida College of Medicine, Gainesville; Department of Neurology (P.B.K.), Boston Children's Hospital and Harvard Medical School, Boston, MA; Department of Neurology (L.M.), University of New Mexico, Albuquerque; Departments of Pediatrics and Neurology & Neurotherapeutics (S.T.I.), University of Texas Southwestern Medical Center, and Children's Medical Center, Dallas; Division of Critical Care Medicine (R.J.G.), Boston Children's Hospital, and Department of Anaesthesia, Harvard Medical School, Boston; Neuromuscular and Neurogenetic Disorders of Childhood Section (C.G.B.), Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Cure Congenital Muscular Dystrophy (Cure CMD) (A.R.), Olathe, KS; Department of Emergency Medicine (A.R.), Kaiser Permanente South Bay Medical Center, Harbor City, CA; Department of Physical Medicine & Rehabilitation (J.H.), University of Michigan, Ann Arbor; Departments of Neurology and Pediatrics (C.H.W.), School of Medicine, Stanford University, CA; Department of Neurology (C.H.W.), Driscoll Children's Hospital, Corpus Christi, TX; Murdoch Childrens Research Institute (K.N.), The Royal Children's Hospital, and University of Melbourne, Australia; Neurology & Neurosurgery (M.O.), McGill University, Montréal, Canada; Center for Health Policy (T.S.D.G., J.A.C., E.E.H.), American Academy of Neurology, Minneapolis, MN; Department of Neurology (G.G.), University of Kansas School of Medicine, Kansas City; and Department of Neurology (R.C.G.), University of Rochester Medical Center, NY.
Maryam OskouiFrom the Division of Pediatric Neurology (P.B.K.), University of Florida College of Medicine, Gainesville; Department of Neurology (P.B.K.), Boston Children's Hospital and Harvard Medical School, Boston, MA; Department of Neurology (L.M.), University of New Mexico, Albuquerque; Departments of Pediatrics and Neurology & Neurotherapeutics (S.T.I.), University of Texas Southwestern Medical Center, and Children's Medical Center, Dallas; Division of Critical Care Medicine (R.J.G.), Boston Children's Hospital, and Department of Anaesthesia, Harvard Medical School, Boston; Neuromuscular and Neurogenetic Disorders of Childhood Section (C.G.B.), Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Cure Congenital Muscular Dystrophy (Cure CMD) (A.R.), Olathe, KS; Department of Emergency Medicine (A.R.), Kaiser Permanente South Bay Medical Center, Harbor City, CA; Department of Physical Medicine & Rehabilitation (J.H.), University of Michigan, Ann Arbor; Departments of Neurology and Pediatrics (C.H.W.), School of Medicine, Stanford University, CA; Department of Neurology (C.H.W.), Driscoll Children's Hospital, Corpus Christi, TX; Murdoch Childrens Research Institute (K.N.), The Royal Children's Hospital, and University of Melbourne, Australia; Neurology & Neurosurgery (M.O.), McGill University, Montréal, Canada; Center for Health Policy (T.S.D.G., J.A.C., E.E.H.), American Academy of Neurology, Minneapolis, MN; Department of Neurology (G.G.), University of Kansas School of Medicine, Kansas City; and Department of Neurology (R.C.G.), University of Rochester Medical Center, NY.
Thomas S D GetchiusFrom the Division of Pediatric Neurology (P.B.K.), University of Florida College of Medicine, Gainesville; Department of Neurology (P.B.K.), Boston Children's Hospital and Harvard Medical School, Boston, MA; Department of Neurology (L.M.), University of New Mexico, Albuquerque; Departments of Pediatrics and Neurology & Neurotherapeutics (S.T.I.), University of Texas Southwestern Medical Center, and Children's Medical Center, Dallas; Division of Critical Care Medicine (R.J.G.), Boston Children's Hospital, and Department of Anaesthesia, Harvard Medical School, Boston; Neuromuscular and Neurogenetic Disorders of Childhood Section (C.G.B.), Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Cure Congenital Muscular Dystrophy (Cure CMD) (A.R.), Olathe, KS; Department of Emergency Medicine (A.R.), Kaiser Permanente South Bay Medical Center, Harbor City, CA; Department of Physical Medicine & Rehabilitation (J.H.), University of Michigan, Ann Arbor; Departments of Neurology and Pediatrics (C.H.W.), School of Medicine, Stanford University, CA; Department of Neurology (C.H.W.), Driscoll Children's Hospital, Corpus Christi, TX; Murdoch Childrens Research Institute (K.N.), The Royal Children's Hospital, and University of Melbourne, Australia; Neurology & Neurosurgery (M.O.), McGill University, Montréal, Canada; Center for Health Policy (T.S.D.G., J.A.C., E.E.H.), American Academy of Neurology, Minneapolis, MN; Department of Neurology (G.G.), University of Kansas School of Medicine, Kansas City; and Department of Neurology (R.C.G.), University of Rochester Medical Center, NY.
Julie A CoxFrom the Division of Pediatric Neurology (P.B.K.), University of Florida College of Medicine, Gainesville; Department of Neurology (P.B.K.), Boston Children's Hospital and Harvard Medical School, Boston, MA; Department of Neurology (L.M.), University of New Mexico, Albuquerque; Departments of Pediatrics and Neurology & Neurotherapeutics (S.T.I.), University of Texas Southwestern Medical Center, and Children's Medical Center, Dallas; Division of Critical Care Medicine (R.J.G.), Boston Children's Hospital, and Department of Anaesthesia, Harvard Medical School, Boston; Neuromuscular and Neurogenetic Disorders of Childhood Section (C.G.B.), Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Cure Congenital Muscular Dystrophy (Cure CMD) (A.R.), Olathe, KS; Department of Emergency Medicine (A.R.), Kaiser Permanente South Bay Medical Center, Harbor City, CA; Department of Physical Medicine & Rehabilitation (J.H.), University of Michigan, Ann Arbor; Departments of Neurology and Pediatrics (C.H.W.), School of Medicine, Stanford University, CA; Department of Neurology (C.H.W.), Driscoll Children's Hospital, Corpus Christi, TX; Murdoch Childrens Research Institute (K.N.), The Royal Children's Hospital, and University of Melbourne, Australia; Neurology & Neurosurgery (M.O.), McGill University, Montréal, Canada; Center for Health Policy (T.S.D.G., J.A.C., E.E.H.), American Academy of Neurology, Minneapolis, MN; Department of Neurology (G.G.), University of Kansas School of Medicine, Kansas City; and Department of Neurology (R.C.G.), University of Rochester Medical Center, NY.
Erin E HagenFrom the Division of Pediatric Neurology (P.B.K.), University of Florida College of Medicine, Gainesville; Department of Neurology (P.B.K.), Boston Children's Hospital and Harvard Medical School, Boston, MA; Department of Neurology (L.M.), University of New Mexico, Albuquerque; Departments of Pediatrics and Neurology & Neurotherapeutics (S.T.I.), University of Texas Southwestern Medical Center, and Children's Medical Center, Dallas; Division of Critical Care Medicine (R.J.G.), Boston Children's Hospital, and Department of Anaesthesia, Harvard Medical School, Boston; Neuromuscular and Neurogenetic Disorders of Childhood Section (C.G.B.), Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Cure Congenital Muscular Dystrophy (Cure CMD) (A.R.), Olathe, KS; Department of Emergency Medicine (A.R.), Kaiser Permanente South Bay Medical Center, Harbor City, CA; Department of Physical Medicine & Rehabilitation (J.H.), University of Michigan, Ann Arbor; Departments of Neurology and Pediatrics (C.H.W.), School of Medicine, Stanford University, CA; Department of Neurology (C.H.W.), Driscoll Children's Hospital, Corpus Christi, TX; Murdoch Childrens Research Institute (K.N.), The Royal Children's Hospital, and University of Melbourne, Australia; Neurology & Neurosurgery (M.O.), McGill University, Montréal, Canada; Center for Health Policy (T.S.D.G., J.A.C., E.E.H.), American Academy of Neurology, Minneapolis, MN; Department of Neurology (G.G.), University of Kansas School of Medicine, Kansas City; and Department of Neurology (R.C.G.), University of Rochester Medical Center, NY.
Gary GronsethFrom the Division of Pediatric Neurology (P.B.K.), University of Florida College of Medicine, Gainesville; Department of Neurology (P.B.K.), Boston Children's Hospital and Harvard Medical School, Boston, MA; Department of Neurology (L.M.), University of New Mexico, Albuquerque; Departments of Pediatrics and Neurology & Neurotherapeutics (S.T.I.), University of Texas Southwestern Medical Center, and Children's Medical Center, Dallas; Division of Critical Care Medicine (R.J.G.), Boston Children's Hospital, and Department of Anaesthesia, Harvard Medical School, Boston; Neuromuscular and Neurogenetic Disorders of Childhood Section (C.G.B.), Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Cure Congenital Muscular Dystrophy (Cure CMD) (A.R.), Olathe, KS; Department of Emergency Medicine (A.R.), Kaiser Permanente South Bay Medical Center, Harbor City, CA; Department of Physical Medicine & Rehabilitation (J.H.), University of Michigan, Ann Arbor; Departments of Neurology and Pediatrics (C.H.W.), School of Medicine, Stanford University, CA; Department of Neurology (C.H.W.), Driscoll Children's Hospital, Corpus Christi, TX; Murdoch Childrens Research Institute (K.N.), The Royal Children's Hospital, and University of Melbourne, Australia; Neurology & Neurosurgery (M.O.), McGill University, Montréal, Canada; Center for Health Policy (T.S.D.G., J.A.C., E.E.H.), American Academy of Neurology, Minneapolis, MN; Department of Neurology (G.G.), University of Kansas School of Medicine, Kansas City; and Department of Neurology (R.C.G.), University of Rochester Medical Center, NY.
Robert C GriggsFrom the Division of Pediatric Neurology (P.B.K.), University of Florida College of Medicine, Gainesville; Department of Neurology (P.B.K.), Boston Children's Hospital and Harvard Medical School, Boston, MA; Department of Neurology (L.M.), University of New Mexico, Albuquerque; Departments of Pediatrics and Neurology & Neurotherapeutics (S.T.I.), University of Texas Southwestern Medical Center, and Children's Medical Center, Dallas; Division of Critical Care Medicine (R.J.G.), Boston Children's Hospital, and Department of Anaesthesia, Harvard Medical School, Boston; Neuromuscular and Neurogenetic Disorders of Childhood Section (C.G.B.), Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Cure Congenital Muscular Dystrophy (Cure CMD) (A.R.), Olathe, KS; Department of Emergency Medicine (A.R.), Kaiser Permanente South Bay Medical Center, Harbor City, CA; Department of Physical Medicine & Rehabilitation (J.H.), University of Michigan, Ann Arbor; Departments of Neurology and Pediatrics (C.H.W.), School of Medicine, Stanford University, CA; Department of Neurology (C.H.W.), Driscoll Children's Hospital, Corpus Christi, TX; Murdoch Childrens Research Institute (K.N.), The Royal Children's Hospital, and University of Melbourne, Australia; Neurology & Neurosurgery (M.O.), McGill University, Montréal, Canada; Center for Health Policy (T.S.D.G., J.A.C., E.E.H.), American Academy of Neurology, Minneapolis, MN; Department of Neurology (G.G.), University of Kansas School of Medicine, Kansas City; and Department of Neurology (R.C.G.), University of Rochester Medical Center, NY.
Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine
Harvard University Press · USKaiser Permanente · USNational Institutes of Health · USStanford University · US

Funding

Molecular and Clinical Manifestations of Matrix and Aggregate MyopathiesZIANS003129 · NINDS · NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE · PI BÖNNEMANN, CARSTEN · 2011 to 2025
$52.8M
NCBDD CDC HHS DD10-1012
6 · The paper itself

Abstract

objectiveTo delineate optimal diagnostic and therapeutic approaches to congenital muscular dystrophy (CMD) through a systematic review and analysis of the currently available literature.

methodsRelevant, peer-reviewed research articles were identified using a literature search of the MEDLINE, EMBASE, and Scopus databases. Diagnostic and therapeutic data from these articles were extracted and analyzed in accordance with the American Academy of Neurology classification of evidence schemes for diagnostic, prognostic, and therapeutic studies. Recommendations were linked to the strength of the evidence, other related literature, and general principles of care.

resultsThe geographic and ethnic backgrounds, clinical features, brain imaging studies, muscle imaging studies, and muscle biopsies of children with suspected CMD help predict subtype-specific diagnoses. Genetic testing can confirm some subtype-specific diagnoses, but not all causative genes for CMD have been described. Seizures and respiratory complications occur in specific subtypes. There is insufficient evidence to determine the efficacy of various treatment interventions to optimize respiratory, orthopedic, and nutritional outcomes, and more data are needed regarding complications. RECOMMENDATIONS: Multidisciplinary care by experienced teams is important for diagnosing and promoting the health of children with CMD. Accurate assessment of clinical presentations and genetic data will help in identifying the correct subtype-specific diagnosis in many cases. Multiorgan system complications occur frequently; surveillance and prompt interventions are likely to be beneficial for affected children. More research is needed to fill gaps in knowledge regarding this category of muscular dystrophies.

Indexed as

Disease ManagementEvidence-Based MedicineAcademies and InstitutesChild, PreschoolHumansMuscular Dystrophies

Identifiers

PMID25825463
PMCPMC4388744
OpenAlexW1977476751

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Read underepoch 390

Registered trials

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