Becker muscular dystrophy
- Synonyms
- Becker's muscular dystrophy; Benign pseudohypertrophic muscular dystrophy; Muscular dystrophy pseudohypertrophic progressive, Becker type
- Modes of inheritance
- X-linked recessive inheritance (Orphanet)
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- GeneReview Scope
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Basil T Darras
- David K Urion
- Partha S Ghosh
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (175 available)
Biochemical Genetics Tests
Molecular Genetics Tests
- Deletion/duplication analysis (93)
- Microsatellite instability testing (MSI) (1)
- Targeted variant analysis (29)
- Mutation scanning of select exons (6)
- Mutation scanning of the entire coding region (3)
- Linkage analysis (1)
- Sequence analysis of select exons (21)
- Sequence analysis of the entire coding region (134)
Clinical features
Help- Abnormality of limbs
- Calf muscle pseudohypertrophy
Calf muscle pseudohypertrophy
- MedGen UID: 374276
- Concept ID: C1839666
- Finding: Finding
Abnormality of limbs
- Calf muscle pseudohypertrophy
- Abnormality of metabolism/homeostasis
- Elevated circulating creatine kinase concentration
Elevated circulating creatine kinase concentration
- MedGen UID: 69128
- Concept ID: C0241005
- Finding: Finding
Abnormality of metabolism/homeostasis
- Elevated circulating creatine kinase concentration
- Abnormality of the cardiovascular system
- Abnormal EKG
Abnormal EKG
- MedGen UID: 105507
- Concept ID: C0522055
- Finding: Finding
Abnormality of the cardiovascular system
- Cardiac arrhythmia
Cardiac arrhythmia
- MedGen UID: 2039
- Concept ID: C0003811
- Finding: Finding
Abnormality of the cardiovascular system
- Cardiomyopathy
Cardiomyopathy
- MedGen UID: 209232
- Concept ID: C0878544
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Abnormal EKG
- Abnormality of the musculoskeletal system
- Muscle weakness
Muscle weakness
- MedGen UID: 57735
- Concept ID: C0151786
- Finding: Finding
Abnormality of the musculoskeletal system
- Muscular dystrophy
Muscular dystrophy
- MedGen UID: 44527
- Concept ID: C0026850
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Muscle weakness
- Abnormality of the nervous system
- Hyporeflexia
Hyporeflexia
- MedGen UID: 195967
- Concept ID: C0700078
- Finding: Finding
Abnormality of the nervous system
- Hyporeflexia
- Constitutional symptom
- Myalgia
Myalgia
- MedGen UID: 68541
- Concept ID: C0231528
- Finding: Sign or Symptom
Constitutional symptom
- Myalgia
- ACMG Algorithm, 2022American College of Medical Genetics and Genomics, Algorithm, ELEVATED CREATINEKINASE(CK)-MM , Genetic Neuromuscular Disorders, 2022
- ACMG ACT, 2020American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated creatine kinase muscle isoform (CKMM), Genetic Neuromuscular Disease, 2020
- ACMG ACT, 2020American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, No Pathogenic Variant in Dystrophin (DMD) Gene after elevated creatine kinase muscle isoform (CK-MM), Genetic Neuromuscular Disease, 2020
- ACMG ACT, 2019American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Pathogenic Variant in Dystrophin (DMD Gene) and elevated creatine kinase muscle isoform (CK-MM), Duchenne and Becker Muscular Dystrophy, 2019
- ACMG ACT, 2012American College of Medical Genetics & Genomics Genetic Testing ACT Sheet, Duchenne and Becker Muscular Dystrophy, 2012
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