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Atrophic muscular disease

MedGen UID:: 156267
•Concept ID:: C0752352
•: Disease or Syndrome

Synonyms:	Atrophic Muscular Disorder; Atrophic Muscular Disorders; Disorder, Atrophic Muscular; Disorders, Atrophic Muscular; Muscular Disorder, Atrophic; Muscular Disorders, Atrophic

Monarch Initiative:	MONDO:0004714

Definition

A group of primary or secondary disorders affecting the muscles. It is characterized by an abnormal reduction in the muscle volume and atrophy. The atrophy may be caused by diseases of the muscle tissues or diseases of the peripheral nerves. [from NCI]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAtrophic muscular disease

Phenotypic abnormality
- Abnormality of the musculoskeletal system
  - Abnormality of the musculature
    - Abnormal skeletal muscle morphology
      - Myopathy
        Atrophic muscular disease
        Muscular dystrophy
        Autosomal recessive limb-girdle muscular dystrophy type 2I
        Autosomal recessive limb-girdle muscular dystrophy type 2K
        Becker muscular dystrophy
        Congenital muscular dystrophy due to LMNA mutation
        Distal myopathy
        Duchenne muscular dystrophy
        Eichsfeld type congenital muscular dystrophy
        Emery-Dreifuss muscular dystrophy
        Autosomal dominant Emery-Dreifuss muscular dystrophy
        Autosomal Emery-Dreifuss Muscular Dystrophy
        Autosomal recessive Emery-Dreifuss muscular dystrophy
        Emery-Dreifuss muscular dystrophy 1, X-linked
        Emery-Dreifuss muscular dystrophy 2, autosomal dominant
        Emery-Dreifuss muscular dystrophy 3, autosomal recessive
        X-linked Emery-Dreifuss muscular dystrophy
        Facioscapulohumeral muscular dystrophy
        Facioscapulohumeral muscular dystrophy 1
        Facioscapulohumeral muscular dystrophy 2
        Glycogen storage disease, type VII
        Limb-girdle muscular dystrophy
        Autosomal recessive limb-girdle muscular dystrophy
        Autosomal recessive limb-girdle muscular dystrophy type 2A
        Autosomal recessive limb-girdle muscular dystrophy type 2B
        Autosomal recessive limb-girdle muscular dystrophy type 2D
        Autosomal recessive limb-girdle muscular dystrophy type 2E
        Autosomal recessive limb-girdle muscular dystrophy type 2R1
        Autosomal recessive limb-girdle muscular dystrophy type 2Y
        Limb-Girdle Muscular Dystrophy Type 1C
        Muscular dystrophy, limb-girdle, autosomal dominant
        Sarcoglycanopathy
        Merosin deficient congenital muscular dystrophy
        Miyoshi muscular dystrophy 1
        Muscular Dystrophy Secondary to Mitochondrial Disorder
        Muscular Dystrophy Secondary to Oxidative Phosphorylation Disorder
        Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
        Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
        Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
        Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
        Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
        Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
        Myotonic dystrophy
        Congenital myotonic dystrophy
        Myotonic cataract
        Myotonic dystrophy type 2
        Steinert myotonic dystrophy syndrome
        Oculopharyngeal muscular dystrophy
        Oculopharyngeal muscular dystrophy 1
        Oculopharyngeal muscular dystrophy 2
        Scapulohumeral muscular dystrophy
        Ullrich congenital muscular dystrophy 1A
        Walker-Warburg congenital muscular dystrophy
        Post poliomyelitis syndrome

Professional guidelines

PubMed

Advances and limitations for the treatment of spinal muscular atrophy.

Day JW, Howell K, Place A, Long K, Rossello J, Kertesz N, Nomikos G
BMC Pediatr 2022 Nov 3;22(1):632. doi: 10.1186/s12887-022-03671-x. PMID: 36329412 Free PMC Article

Muscle Weakness in Adults: Evaluation and Differential Diagnosis.

Larson ST, Wilbur J
Am Fam Physician 2020 Jan 15;101(2):95-108. PMID: 31939642

Neuromuscular diseases: Diagnosis and management.

Mary P, Servais L, Vialle R
Orthop Traumatol Surg Res 2018 Feb;104(1S):S89-S95. Epub 2017 Nov 28 doi: 10.1016/j.otsr.2017.04.019. PMID: 29196274

See all (541)

Recent clinical studies

Etiology

Prevalence and Mechanisms of Skeletal Muscle Atrophy in Metabolic Conditions.

Jun L, Robinson M, Geetha T, Broderick TL, Babu JR
Int J Mol Sci 2023 Feb 3;24(3) doi: 10.3390/ijms24032973. PMID: 36769296 Free PMC Article

Sarcopenia - Molecular mechanisms and open questions.

Wiedmer P, Jung T, Castro JP, Pomatto LCD, Sun PY, Davies KJA, Grune T
Ageing Res Rev 2021 Jan;65:101200. Epub 2020 Oct 29 doi: 10.1016/j.arr.2020.101200. PMID: 33130247

Critical illness-associated diaphragm weakness.

Dres M, Goligher EC, Heunks LMA, Brochard LJ
Intensive Care Med 2017 Oct;43(10):1441-1452. Epub 2017 Sep 15 doi: 10.1007/s00134-017-4928-4. PMID: 28917004

The Sick and the Weak: Neuropathies/Myopathies in the Critically Ill.

Friedrich O, Reid MB, Van den Berghe G, Vanhorebeek I, Hermans G, Rich MM, Larsson L
Physiol Rev 2015 Jul;95(3):1025-109. doi: 10.1152/physrev.00028.2014. PMID: 26133937 Free PMC Article

Muscle type and fiber type specificity in muscle wasting.

Ciciliot S, Rossi AC, Dyar KA, Blaauw B, Schiaffino S
Int J Biochem Cell Biol 2013 Oct;45(10):2191-9. Epub 2013 May 21 doi: 10.1016/j.biocel.2013.05.016. PMID: 23702032

See all (3393)

Diagnosis

Complexity of skeletal muscle degeneration: multi-systems pathophysiology and organ crosstalk in dystrophinopathy.

Ohlendieck K, Swandulla D
Pflugers Arch 2021 Dec;473(12):1813-1839. Epub 2021 Sep 22 doi: 10.1007/s00424-021-02623-1. PMID: 34553265 Free PMC Article

Neonatal hypotonia and neuromuscular conditions.

Mercuri E, Pera MC, Brogna C
Handb Clin Neurol 2019;162:435-448. doi: 10.1016/B978-0-444-64029-1.00021-7. PMID: 31324324

Intensive care unit-acquired weakness: unanswered questions and targets for future research.

Piva S, Fagoni N, Latronico N
F1000Res 2019;8 Epub 2019 Apr 17 doi: 10.12688/f1000research.17376.1. PMID: 31069055 Free PMC Article

Assessment of Muscle Function and Physical Performance in Daily Clinical Practice : A position paper endorsed by the European Society for Clinical and Economic Aspects of Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (ESCEO).

Beaudart C, Rolland Y, Cruz-Jentoft AJ, Bauer JM, Sieber C, Cooper C, Al-Daghri N, Araujo de Carvalho I, Bautmans I, Bernabei R, Bruyère O, Cesari M, Cherubini A, Dawson-Hughes B, Kanis JA, Kaufman JM, Landi F, Maggi S, McCloskey E, Petermans J, Rodriguez Mañas L, Reginster JY, Roller-Wirnsberger R, Schaap LA, Uebelhart D, Rizzoli R, Fielding RA
Calcif Tissue Int 2019 Jul;105(1):1-14. Epub 2019 Apr 10 doi: 10.1007/s00223-019-00545-w. PMID: 30972475

The Sick and the Weak: Neuropathies/Myopathies in the Critically Ill.

Friedrich O, Reid MB, Van den Berghe G, Vanhorebeek I, Hermans G, Rich MM, Larsson L
Physiol Rev 2015 Jul;95(3):1025-109. doi: 10.1152/physrev.00028.2014. PMID: 26133937 Free PMC Article

See all (4250)

Therapy

The Application of Creatine Supplementation in Medical Rehabilitation.

Harmon KK, Stout JR, Fukuda DH, Pabian PS, Rawson ES, Stock MS
Nutrients 2021 May 27;13(6) doi: 10.3390/nu13061825. PMID: 34071875 Free PMC Article

Assessing Diaphragmatic Function.

Schepens T, Fard S, Goligher EC
Respir Care 2020 Jun;65(6):807-819. doi: 10.4187/respcare.07410. PMID: 32457172

Critical illness-associated diaphragm weakness.

Dres M, Goligher EC, Heunks LMA, Brochard LJ
Intensive Care Med 2017 Oct;43(10):1441-1452. Epub 2017 Sep 15 doi: 10.1007/s00134-017-4928-4. PMID: 28917004

Early mobilization: Why, what for and how?

Miranda Rocha AR, Martinez BP, Maldaner da Silva VZ, Forgiarini Junior LA
Med Intensiva 2017 Oct;41(7):429-436. Epub 2017 Mar 7 doi: 10.1016/j.medin.2016.10.003. PMID: 28283324

Consequences of bed rest.

Brower RG
Crit Care Med 2009 Oct;37(10 Suppl):S422-8. doi: 10.1097/CCM.0b013e3181b6e30a. PMID: 20046130

See all (2001)

Prognosis

Mechanisms of muscle atrophy and hypertrophy: implications in health and disease.

Sartori R, Romanello V, Sandri M
Nat Commun 2021 Jan 12;12(1):330. doi: 10.1038/s41467-020-20123-1. PMID: 33436614 Free PMC Article

Assessing Diaphragmatic Function.

Schepens T, Fard S, Goligher EC
Respir Care 2020 Jun;65(6):807-819. doi: 10.4187/respcare.07410. PMID: 32457172

Sarcopenia in cirrhosis: from pathogenesis to interventions.

Ebadi M, Bhanji RA, Mazurak VC, Montano-Loza AJ
J Gastroenterol 2019 Oct;54(10):845-859. Epub 2019 Aug 7 doi: 10.1007/s00535-019-01605-6. PMID: 31392488 Free PMC Article

Neuromuscular diseases: Diagnosis and management.

Mary P, Servais L, Vialle R
Orthop Traumatol Surg Res 2018 Feb;104(1S):S89-S95. Epub 2017 Nov 28 doi: 10.1016/j.otsr.2017.04.019. PMID: 29196274

Sarcopenia and frailty in chronic respiratory disease.

Bone AE, Hepgul N, Kon S, Maddocks M
Chron Respir Dis 2017 Feb;14(1):85-99. Epub 2017 Feb 24 doi: 10.1177/1479972316679664. PMID: 27923981 Free PMC Article

See all (1999)

Clinical prediction guides

Muscle Wasting and Sarcopenia in Heart Failure-The Current State of Science.

Lena A, Anker MS, Springer J
Int J Mol Sci 2020 Sep 8;21(18) doi: 10.3390/ijms21186549. PMID: 32911600 Free PMC Article

Intensive care unit-acquired weakness: unanswered questions and targets for future research.

Piva S, Fagoni N, Latronico N
F1000Res 2019;8 Epub 2019 Apr 17 doi: 10.12688/f1000research.17376.1. PMID: 31069055 Free PMC Article

The Sick and the Weak: Neuropathies/Myopathies in the Critically Ill.

Friedrich O, Reid MB, Van den Berghe G, Vanhorebeek I, Hermans G, Rich MM, Larsson L
Physiol Rev 2015 Jul;95(3):1025-109. doi: 10.1152/physrev.00028.2014. PMID: 26133937 Free PMC Article

Faulkner JA, Larkin LM, Claflin DR, Brooks SV
Clin Exp Pharmacol Physiol 2007 Nov;34(11):1091-6. doi: 10.1111/j.1440-1681.2007.04752.x. PMID: 17880359

See all (2851)

Recent systematic reviews

Efficacy of risdiplam in spinal muscular atrophy: A systematic review and meta-analysis.

Pascual-Morena C, Martínez-Vizcaíno V, Cavero-Redondo I, Martínez-García I, Moreno-Herráiz N, Álvarez-Bueno C, Saz-Lara A
Pharmacotherapy 2024 Jan;44(1):97-105. Epub 2023 Aug 21 doi: 10.1002/phar.2866. PMID: 37574770

The rate and assessment of muscle wasting during critical illness: a systematic review and meta-analysis.

Fazzini B, Märkl T, Costas C, Blobner M, Schaller SJ, Prowle J, Puthucheary Z, Wackerhage H
Crit Care 2023 Jan 3;27(1):2. doi: 10.1186/s13054-022-04253-0. PMID: 36597123 Free PMC Article

Mid- and long-term (at least 12 months) follow-up of patients with spinal muscular atrophy (SMA) treated with nusinersen, onasemnogene abeparvovec, risdiplam or combination therapies: A systematic review of real-world study data.

Erdos J, Wild C
Eur J Paediatr Neurol 2022 Jul;39:1-10. Epub 2022 Apr 30 doi: 10.1016/j.ejpn.2022.04.006. PMID: 35533607

How does risdiplam compare with other treatments for Types 1-3 spinal muscular atrophy: a systematic literature review and indirect treatment comparison.

Ribero VA, Daigl M, Martí Y, Gorni K, Evans R, Scott DA, Mahajan A, Abrams KR, Hawkins N
J Comp Eff Res 2022 Apr;11(5):347-370. Epub 2022 Jan 18 doi: 10.2217/cer-2021-0216. PMID: 35040693

Blood flow restriction training in clinical musculoskeletal rehabilitation: a systematic review and meta-analysis.

Hughes L, Paton B, Rosenblatt B, Gissane C, Patterson SD
Br J Sports Med 2017 Jul;51(13):1003-1011. Epub 2017 Mar 4 doi: 10.1136/bjsports-2016-097071. PMID: 28259850

See all (114)

MedGen

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Atrophic muscular disease

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Clinical resources

Practice guidelines

Consumer resources

Reviews

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