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Autosomal recessive limb-girdle muscular dystrophy type 2C(LGMDR5)

MedGen UID:
98045
Concept ID:
C0410173
Disease or Syndrome
Synonyms: Adhalin deficiency, secondary; Duchenne-like muscular dystrophy, autosomal recessive, type 1; Gamma-Sarcoglycanopathy; LGMDR5; Limb-girdle muscular dystrophy with gamma-sarcoglycan deficiency; Limb-girdle muscular dystrophy, type 2C; Maghrebian myopathy; Muscular dystrophy, Duchenne-like; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 5; Severe childhood autosomal recessive muscular dystrophy, North African type
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): SGCG (13q12.12)
 
Monarch Initiative: MONDO:0009677
OMIM®: 253700
Orphanet: ORPHA353

Definition

A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood onset of progressive shoulder and pelvic girdle muscle weakness and atrophy frequently associated with calf hypertrophy, diaphragmatic weakness, and/or variable cardiac abnormalities. Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported. [from ORDO]

Clinical features

From HPO
Calf muscle pseudohypertrophy
MedGen UID:
374276
Concept ID:
C1839666
Finding
Enlargement of the muscles of the calf due to their replacement by connective tissue or fat.
Right ventricular hypertrophy
MedGen UID:
57981
Concept ID:
C0162770
Disease or Syndrome
In this case the right ventricle is more muscular than normal, causing a characteristic boot-shaped (coeur-en-sabot) appearance as seen on anterior- posterior chest x-rays. Right ventricular hypertrophy is commonly associated with any form of right ventricular outflow obstruction or pulmonary hypertension, which may in turn owe its origin to left-sided disease. The echocardiographic signs are thickening of the anterior right ventricular wall and the septum. Cavity size is usually normal, or slightly enlarged. In many cases there is associated volume overload present due to tricuspid regurgitation, in the absence of this, septal motion is normal.
Right ventricular dilatation
MedGen UID:
138012
Concept ID:
C0344893
Congenital Abnormality
Enlargement of the chamber of the right ventricle.
Loss of ambulation
MedGen UID:
332305
Concept ID:
C1836843
Finding
Inability to walk in a person who previous had the ability to walk.
Hyperlordosis
MedGen UID:
9805
Concept ID:
C0024003
Finding
Abnormally increased curvature (anterior concavity) of the lumbar or cervical spine.
Muscular dystrophy
MedGen UID:
44527
Concept ID:
C0026850
Disease or Syndrome
The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities.
Scoliosis
MedGen UID:
11348
Concept ID:
C0036439
Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Gowers sign
MedGen UID:
65865
Concept ID:
C0234182
Finding
A phenomenon whereby patients are not able to stand up without the use of the hands owing to weakness of the proximal muscles of the lower limbs.
Flexion contracture
MedGen UID:
83069
Concept ID:
C0333068
Anatomical Abnormality
A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.
Skeletal muscle atrophy
MedGen UID:
892680
Concept ID:
C0541794
Pathologic Function
The presence of skeletal muscular atrophy (which is also known as amyotrophy).
Muscle fiber splitting
MedGen UID:
322813
Concept ID:
C1836057
Finding
Fiber splitting or branching is a common finding in human and rat skeletal muscle pathology. Fiber splitting refers to longitudinal halving of the complete fiber, while branching originates from a regenerating end of a necrotic fiber as invaginations of the sarcolemma. In fiber branching, one end of the fiber remains intact as a single entity, while the other end has several branches.
Increased variability in muscle fiber diameter
MedGen UID:
336019
Concept ID:
C1843700
Finding
An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy.
Muscle fiber necrosis
MedGen UID:
376893
Concept ID:
C1850848
Pathologic Function
Abnormal cell death involving muscle fibers usually associated with break in, or absence of, muscle surface fiber membrane and resulting in irreversible damage to muscle fibers.
Type 1 muscle fiber predominance
MedGen UID:
344274
Concept ID:
C1854387
Finding
An abnormal predominance of type I muscle fibers (in general, this feature can only be observed on muscle biopsy).
Increased endomysial connective tissue
MedGen UID:
867771
Concept ID:
C4022161
Finding
An increased volume of the endomysium, which is a connective tissue sheath that surrounds each muscule fiber. Together, bundles of muscle fibers form a fasciculus, surrounded by another layer of connective tissue called the perimysium.
Restrictive ventilatory defect
MedGen UID:
478856
Concept ID:
C3277226
Finding
A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Spirometrically, a restrictive defect is defined as FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus.
Pneumonia
MedGen UID:
10813
Concept ID:
C0032285
Disease or Syndrome
Inflammation of any part of the lung parenchyma.
Elevated circulating creatine kinase concentration
MedGen UID:
69128
Concept ID:
C0241005
Finding
An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Autosomal recessive limb-girdle muscular dystrophy type 2C in Orphanet.

Recent clinical studies

Etiology

Fayssoil A, Ogna A, Chaffaut C, Chevret S, Guimarães-Costa R, Leturcq F, Wahbi K, Prigent H, Lofaso F, Nardi O, Clair B, Behin A, Stojkovic T, Laforet P, Orlikowski D, Annane D
PLoS One 2016;11(4):e0153095. Epub 2016 Apr 27 doi: 10.1371/journal.pone.0153095. PMID: 27120200Free PMC Article
Herson S, Hentati F, Rigolet A, Behin A, Romero NB, Leturcq F, Laforêt P, Maisonobe T, Amouri R, Haddad H, Audit M, Montus M, Masurier C, Gjata B, Georger C, Cheraï M, Carlier P, Hogrel JY, Herson A, Allenbach Y, Lemoine FM, Klatzmann D, Sweeney HL, Mulligan RC, Eymard B, Caizergues D, Voït T, Benveniste O
Brain 2012 Feb;135(Pt 2):483-92. Epub 2012 Jan 11 doi: 10.1093/brain/awr342. PMID: 22240777
McMillan HJ, Carter MT, Jacob PJ, Laffan EE, O'Connor MD, Boycott KM
Muscle Nerve 2009 Mar;39(3):396-9. doi: 10.1002/mus.21222. PMID: 19208398
Navarro C, Teijeira S
Acta Myol 2003 May;22(1):11-4. PMID: 12966699
McNally EM, Passos-Bueno MR, Bönnemann CG, Vainzof M, de Sá Moreira E, Lidov HG, Othmane KB, Denton PH, Vance JM, Zatz M, Kunkel LM
Am J Hum Genet 1996 Nov;59(5):1040-7. PMID: 8900232Free PMC Article

Diagnosis

Vainzof M, Souza LS, Gurgel-Giannetti J, Zatz M
Neuromuscul Disord 2021 Oct;31(10):1021-1027. Epub 2021 Jul 28 doi: 10.1016/j.nmd.2021.07.014. PMID: 34404573
Xie Z, Hou Y, Yu M, Liu Y, Fan Y, Zhang W, Wang Z, Xiong H, Yuan Y
Orphanet J Rare Dis 2019 Feb 14;14(1):43. doi: 10.1186/s13023-019-1021-9. PMID: 30764848Free PMC Article
El Kerch F, Ratbi I, Sbiti A, Laarabi FZ, Barkat A, Sefiani A
Genet Test Mol Biomarkers 2014 Apr;18(4):253-6. Epub 2014 Feb 19 doi: 10.1089/gtmb.2013.0326. PMID: 24552312Free PMC Article
Okizuka Y, Takeshima Y, Itoh K, Zhang Z, Awano H, Maruyama K, Kumagai T, Yagi M, Matsuo M
BMC Med Genet 2010 Mar 30;11:49. doi: 10.1186/1471-2350-11-49. PMID: 20350330Free PMC Article
Vermeer S, Verrips A, Willemsen MA, ter Laak HJ, Ginjaar IB, Hamel BC
Pediatr Neurol 2004 Apr;30(4):291-4. doi: 10.1016/j.pediatrneurol.2003.11.006. PMID: 15087111

Therapy

Fayssoil A, Ogna A, Chaffaut C, Chevret S, Guimarães-Costa R, Leturcq F, Wahbi K, Prigent H, Lofaso F, Nardi O, Clair B, Behin A, Stojkovic T, Laforet P, Orlikowski D, Annane D
PLoS One 2016;11(4):e0153095. Epub 2016 Apr 27 doi: 10.1371/journal.pone.0153095. PMID: 27120200Free PMC Article
Herson S, Hentati F, Rigolet A, Behin A, Romero NB, Leturcq F, Laforêt P, Maisonobe T, Amouri R, Haddad H, Audit M, Montus M, Masurier C, Gjata B, Georger C, Cheraï M, Carlier P, Hogrel JY, Herson A, Allenbach Y, Lemoine FM, Klatzmann D, Sweeney HL, Mulligan RC, Eymard B, Caizergues D, Voït T, Benveniste O
Brain 2012 Feb;135(Pt 2):483-92. Epub 2012 Jan 11 doi: 10.1093/brain/awr342. PMID: 22240777

Prognosis

Xie Z, Hou Y, Yu M, Liu Y, Fan Y, Zhang W, Wang Z, Xiong H, Yuan Y
Orphanet J Rare Dis 2019 Feb 14;14(1):43. doi: 10.1186/s13023-019-1021-9. PMID: 30764848Free PMC Article
Fayssoil A, Ogna A, Chaffaut C, Chevret S, Guimarães-Costa R, Leturcq F, Wahbi K, Prigent H, Lofaso F, Nardi O, Clair B, Behin A, Stojkovic T, Laforet P, Orlikowski D, Annane D
PLoS One 2016;11(4):e0153095. Epub 2016 Apr 27 doi: 10.1371/journal.pone.0153095. PMID: 27120200Free PMC Article
Herson S, Hentati F, Rigolet A, Behin A, Romero NB, Leturcq F, Laforêt P, Maisonobe T, Amouri R, Haddad H, Audit M, Montus M, Masurier C, Gjata B, Georger C, Cheraï M, Carlier P, Hogrel JY, Herson A, Allenbach Y, Lemoine FM, Klatzmann D, Sweeney HL, Mulligan RC, Eymard B, Caizergues D, Voït T, Benveniste O
Brain 2012 Feb;135(Pt 2):483-92. Epub 2012 Jan 11 doi: 10.1093/brain/awr342. PMID: 22240777
Okizuka Y, Takeshima Y, Itoh K, Zhang Z, Awano H, Maruyama K, Kumagai T, Yagi M, Matsuo M
BMC Med Genet 2010 Mar 30;11:49. doi: 10.1186/1471-2350-11-49. PMID: 20350330Free PMC Article
Lasa A, Piccolo F, de Diego C, Jeanpierre M, Colomer J, Rodríguez MJ, Urtizberea JA, Baiget M, Kaplan J, Gallano P
Eur J Hum Genet 1998 Jul-Aug;6(4):396-9. doi: 10.1038/sj.ejhg.5200197. PMID: 9781048

Clinical prediction guides

Xie Z, Hou Y, Yu M, Liu Y, Fan Y, Zhang W, Wang Z, Xiong H, Yuan Y
Orphanet J Rare Dis 2019 Feb 14;14(1):43. doi: 10.1186/s13023-019-1021-9. PMID: 30764848Free PMC Article
Fayssoil A, Ogna A, Chaffaut C, Chevret S, Guimarães-Costa R, Leturcq F, Wahbi K, Prigent H, Lofaso F, Nardi O, Clair B, Behin A, Stojkovic T, Laforet P, Orlikowski D, Annane D
PLoS One 2016;11(4):e0153095. Epub 2016 Apr 27 doi: 10.1371/journal.pone.0153095. PMID: 27120200Free PMC Article
Kefi M, Amouri R, Driss A, Ben Hamida C, Ben Hamida M, Kunkel LM, Hentati F
Neuromuscul Disord 2003 Dec;13(10):779-87. doi: 10.1016/s0960-8966(03)00136-6. PMID: 14678800

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