Book contents
- Neuromuscular Disease: A Case-Based Approach
- Neuromuscular Disease
- Copyright page
- Contents
- Contributors
- Foreword
- Preface to 2nd Edition
- Part I Evaluation and Treatment of Patients with a Neuromuscular Disorder
- Part II Neuromuscular Cases
- Disorders of the Anterior Horn Cell
- Peripheral Neuropathies
- Disorders of the Neuromuscular Junction
- Myopathies
- Case 36 Duchenne Muscular Dystrophy (DMD)
- Case 37 Becker Muscular Dystrophy (BMD)
- Case 38 Facioscapulohumeral Muscular Dystrophy (FSHD)
- Case 39 Myotonic Dystrophy Type 1 (DM1)
- Case 40 Myotonic Dystrophy Type 2 (DM2)
- Case 41 Limb Girdle Muscular Dystrophy (LGMD) R1, Calpain-Related
- Case 42 Limb Girdle Muscular Dystrophy (LGMD) R9, FKRP-Related
- Case 43 Bethlem Myopathy, a Collagen VI-Related Myopathy (LGMDD5); Ullrich Congenital Muscular Dystrophy
- Case 44 Oculopharyngeal Muscular Dystrophy (OPMD)
- Case 45 Emery–Dreifuss Muscular Dystrophy (EDMD)
- Case 46 Caveolinopathy, Rippling Muscle Disease
- Case 47 Distal Myopathies: Miyoshi Myopathy, Dysferlinopathy; Anoctaminopathy
- Case 48 Distal Myopathies: GNE Myopathy
- Case 49 Myofibrillar Myopathies: Desminopathy
- Case 50 Skeletal Muscle Channelopathies: Non-Dystrophic Myotonia; Myotonia Congenita (Becker)
- Case 51 Skeletal Muscle Channelopathies: Hypokalaemic Periodic Paralysis
- Case 52 Pompe Disease (Glycogen Storage Disease (GSD) Type II; α-Glucosidase Deficiency)
- Case 53 McArdle Disease (Glycogen Storage Disease (GSD) Type V); Myophosphorylase Deficiency, Rhabdomyolysis
- Case 54 Carnitine Palmitoyltransferase-II (CPT2) Deficiency
- Case 55 Mitochondrial Myopathies: Chronic Progressive External Ophthalmoplegia (CPEO)
- Case 56 Ryanodine Receptor 1 (RYR1)-Related Disorders
- Case 57 Congenital Myopathies: X-Linked Myotubular Myopathy
- Case 58 Congenital Myopathies: Nemaline Myopathy
- Case 59 Juvenile Dermatomyositis (JDM)
- Case 60 Dermatomyositis (DM)
- Case 61 Immune-Mediated Necrotizing Myopathy (IMNM)
- Case 62 Inclusion Body Myositis (IBM)
- Case 63 Endocrine Myopathy: Hypothyroid Myopathy; Hyperthyroid Myopathy
- Case 64 Drug-Induced Myopathies: Hydroxychloroquine Myopathy
- Case 65 A- or Paucisymptomatic HyperCKaemia
- Cases 66 Exertional Rhabdomyolysis
- Video legends
- Index
- References
Case 37 - Becker Muscular Dystrophy (BMD)
from Myopathies
Published online by Cambridge University Press: aN Invalid Date NaN
Book contents
- Neuromuscular Disease: A Case-Based Approach
- Neuromuscular Disease
- Copyright page
- Contents
- Contributors
- Foreword
- Preface to 2nd Edition
- Part I Evaluation and Treatment of Patients with a Neuromuscular Disorder
- Part II Neuromuscular Cases
- Disorders of the Anterior Horn Cell
- Peripheral Neuropathies
- Disorders of the Neuromuscular Junction
- Myopathies
- Case 36 Duchenne Muscular Dystrophy (DMD)
- Case 37 Becker Muscular Dystrophy (BMD)
- Case 38 Facioscapulohumeral Muscular Dystrophy (FSHD)
- Case 39 Myotonic Dystrophy Type 1 (DM1)
- Case 40 Myotonic Dystrophy Type 2 (DM2)
- Case 41 Limb Girdle Muscular Dystrophy (LGMD) R1, Calpain-Related
- Case 42 Limb Girdle Muscular Dystrophy (LGMD) R9, FKRP-Related
- Case 43 Bethlem Myopathy, a Collagen VI-Related Myopathy (LGMDD5); Ullrich Congenital Muscular Dystrophy
- Case 44 Oculopharyngeal Muscular Dystrophy (OPMD)
- Case 45 Emery–Dreifuss Muscular Dystrophy (EDMD)
- Case 46 Caveolinopathy, Rippling Muscle Disease
- Case 47 Distal Myopathies: Miyoshi Myopathy, Dysferlinopathy; Anoctaminopathy
- Case 48 Distal Myopathies: GNE Myopathy
- Case 49 Myofibrillar Myopathies: Desminopathy
- Case 50 Skeletal Muscle Channelopathies: Non-Dystrophic Myotonia; Myotonia Congenita (Becker)
- Case 51 Skeletal Muscle Channelopathies: Hypokalaemic Periodic Paralysis
- Case 52 Pompe Disease (Glycogen Storage Disease (GSD) Type II; α-Glucosidase Deficiency)
- Case 53 McArdle Disease (Glycogen Storage Disease (GSD) Type V); Myophosphorylase Deficiency, Rhabdomyolysis
- Case 54 Carnitine Palmitoyltransferase-II (CPT2) Deficiency
- Case 55 Mitochondrial Myopathies: Chronic Progressive External Ophthalmoplegia (CPEO)
- Case 56 Ryanodine Receptor 1 (RYR1)-Related Disorders
- Case 57 Congenital Myopathies: X-Linked Myotubular Myopathy
- Case 58 Congenital Myopathies: Nemaline Myopathy
- Case 59 Juvenile Dermatomyositis (JDM)
- Case 60 Dermatomyositis (DM)
- Case 61 Immune-Mediated Necrotizing Myopathy (IMNM)
- Case 62 Inclusion Body Myositis (IBM)
- Case 63 Endocrine Myopathy: Hypothyroid Myopathy; Hyperthyroid Myopathy
- Case 64 Drug-Induced Myopathies: Hydroxychloroquine Myopathy
- Case 65 A- or Paucisymptomatic HyperCKaemia
- Cases 66 Exertional Rhabdomyolysis
- Video legends
- Index
- References
Summary
A 23-year-old man gradually noticed slowly progressive difficulty running and climbing stairs and therefore he was referred. In retrospect, he had a hollow back since age 10, and when running, he had had difficulty keeping up with his peers. He had a younger brother with similar complaints. Serum CK activity was elevated (15 × ULN). EMG, which had been carried out by the referring neurologist, showed small motor unit action potentials.
Keywords
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- Neuromuscular DiseaseA Case-Based Approach, pp. 176 - 179Publisher: Cambridge University PressPrint publication year: 2024
References
Suggested Reading
Darras, BT, Urion, DK, Ghosh, PS. Dystrophinopathies. 2000 Sep 5 [updated 2022 Jan 20]. In Adam, MP, Mirzaa, GM, Pagon, RA, et al., editors. GeneReviews® [Internet]. Seattle, WA: University of Washington; 1993–2023. PMID: 20301298.Google Scholar
Fratter, C, Dalgleish, R, Allen, SK, et al. EMQN best practice guidelines for genetic testing in dystrophinopathies. Eur J Hum Genet 2020;28(9):1141–1159. doi: 10.1038/s41431-020-0643-7. Epub 2020 May 18. PMID: 32424326; PMCID: PMC7608854.CrossRefGoogle ScholarPubMed
Papa, AA, D’Ambrosio, P, Petillo, R, Palladino, A, Politano, L. Heart transplantation in patients with dystrophinopathic cardiomyopathy: review of the literature and personal series. Intractable Rare Dis Res 2017;6(2):95–101. doi: 10.5582/irdr.2017.01024. PMID: 28580208; PMCID: PMC5451754.CrossRefGoogle ScholarPubMed
Straub, V, Guglieri, M. An update on Becker muscular dystrophy. Curr Opin Neurol 2023;36(5):450–454. doi: 10.1097/WCO.0000000000001191. Epub 2023 Aug 21. PMID: 37591308; PMCID: PMC10487383.CrossRefGoogle ScholarPubMed
Tasca, G, Iannaccone, E, Monforte, M, et al. Muscle MRI in Becker muscular dystrophy. Neuromuscul Disord 2012;22 Suppl 2:S100-6. doi: 10.1016/j.nmd.2012.05.015. PMID: 22980760.CrossRefGoogle ScholarPubMed