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 36 - Duchenne Muscular Dystrophy (DMD)
from Myopathies
Published online by Cambridge University Press: aN Invalid Date NaN
- 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 boy was referred at the age of 2 years and 8 months because of frequent falls. This occurred several times per day and he had hurt his head on multiple occasions. Earlier major motor milestones had been delayed by several months. He had achieved rolling over at 9 months, crawling at 15, and independent walking just before his second birthday. Speech and language development were also behind as his first word had been heard around the age of 2 and he now mastered no more than ten. He was friendly in his behaviour and made good eye contact. Pregnancy and birth had been unremarkable. His mother was 5 months pregnant with her second child. Family history was unremarkable.
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- Neuromuscular DiseaseA Case-Based Approach, pp. 173 - 175Publisher: Cambridge University PressPrint publication year: 2024