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Thigh hypertrophy

MedGen UID:
339581
Concept ID:
C1846674
Finding
Synonym: Increased thigh size
 
HPO: HP:0003733

Definition

Muscle hypertrophy affecting the thighs. [from HPO]

Conditions with this feature

Autosomal recessive limb-girdle muscular dystrophy type 2I
MedGen UID:
339580
Concept ID:
C1846672
Disease or Syndrome
MDGDC5 is an autosomal recessive muscular dystrophy characterized by variable age at onset, normal cognition, and no structural brain changes (Brockington et al., 2001). It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' (Mercuri et al., 2006). For a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type C, see MDDGC1 (609308).
Muscular dystrophy-dystroglycanopathy type B5
MedGen UID:
335764
Concept ID:
C1847759
Disease or Syndrome
MDDGB5 is an autosomal recessive congenital muscular dystrophy with impaired intellectual development and structural brain abnormalities (Brockington et al., 2001). It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' (Mercuri et al., 2006). For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (613155).

Professional guidelines

PubMed

Saleem T, Luke C, Raju S
J Vasc Surg Venous Lymphat Disord 2022 Nov;10(6):1343-1351.e3. Epub 2022 Jun 30 doi: 10.1016/j.jvsv.2022.04.020. PMID: 35779829
Kataoka M, Kawakami T, Tamura Y, Yoshino H, Satoh T, Tanabe T, Fukuda K
J Cardiovasc Pharmacol Ther 2013 Jan;18(1):54-9. Epub 2012 Sep 24 doi: 10.1177/1074248412457046. PMID: 23008153
Fomufod AK, Antia AU
Trop Geogr Med 1971 Jun;23(2):208-11. PMID: 4254965

Recent clinical studies

Etiology

Alhamidi M, Brox V, Stensland E, Liset M, Lindal S, Nilssen Ø
Neuromuscul Disord 2017 Jul;27(7):619-626. Epub 2017 Mar 4 doi: 10.1016/j.nmd.2017.02.015. PMID: 28479227

Diagnosis

Ayesh Haj Yousef MH, Al-Khatib SM, Khasawneh RA, Rahabneh L
BMJ Case Rep 2022 Dec 2;15(12) doi: 10.1136/bcr-2022-253469. PMID: 36460313Free PMC Article

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