Book contents
- Neuromuscular Disease: A Case-Based Approach
- Neuromuscular Disease: A Case-Based Approach
- Copyright page
- Contents
- Preface
- Abbreviations
- Introduction: approach to the patient
- Case 1 Classic amyotrophic lateral sclerosis
- Case 2 Amyotrophic lateral sclerosis with frontotemporal dementia
- Case 3 Primary lateral sclerosis
- Case 4 Progressive muscular atrophy
- Case 5 Kennedy disease
- Case 6 Spinal muscular atrophy type 3, Kugelberg–Welander disease
- Case 7 Postpoliomyelitis syndrome
- Case 8 Spinal dural fistula
- Case 9 Charcot–Marie–Tooth disease type 1A
- Case 10 Hereditary neuropathy with liability to pressure palsy
- Case 11 Charcot–Marie–Tooth disease type 2A, mitofusinopathy
- Case 12 X-linked Charcot–Marie–Tooth disease
- Case 13 Hereditary sensory and autonomic neuropathy type 4
- Case 14 Guillain–Barré syndrome
- Case 15 Miller–Fisher syndrome
- Case 16 Chronic inflammatory demyelinating polyneuropathy
- Case 17 Multifocal motor neuropathy
- Case 18 Peripheral nerve hyperexcitability syndrome, Morvan’s syndrome
- Case 19 Vasculitic neuropathy
- Case 20 Neuropathy and ataxia caused by immunoglobulin-M gammopathy
- Case 21 Polyneuropathy, organomegaly, endocrine manifestations, monoclonal protein, and skin changes, POEMS
- Case 22 Subacute sensory paraneoplastic neuropathy and ganglionopathy
- Case 23 Neurolymphomatosis
- Case 24 Diabetic polyneuropathy
- Case 25 Alcoholic neuropathy
- Case 26 Human immunodeficiency virus neuropathy
- Case 27 Lyme radiculoneuritis
- Case 28 Lepromatous neuropathy
- Case 29 Toxic iatrogenic neuropathy
- Case 30 Idiopathic neuralgic amyotrophy
- Case 31 Small nerve fiber neuropathy
- Case 32 Critical illness polyneuropathy
- Case 33 Chronic idiopathic axonal polyneuropathy
- Case 34 Classic myasthenia gravis
- Case 35 Myasthenia gravis with autoantibodies to muscle-specific kinase
- Case 36 Lambert–Eaton myasthenic syndrome
- Case 37 Congenital myasthenic syndrome, slow channel syndrome
- Case 38 Becker muscular dystrophy
- Case 39 Caveolinopathy, including limb girdle muscular dystrophy type 1C
- Case 40 Limb girdle muscular dystrophy type 2A, calpainopathy
- Case 41 Limb girdle muscular dystrophy type 2I, fukutin-related protein deficiency
- Case 42 Emery–Dreifuss muscular dystrophy
- Case 43 Facioscapulohumeral dystrophy
- Case 44 Miyoshi distal myopathy, dysferlin myopathy
- Case 45 Distal myopathy with rimmed vacuoles, hereditary inclusion body myopathy
- Case 46 Oculopharyngeal muscular dystrophy
- Case 47 Myofibrillar myopathies: desminopathy
- Case 48 Late-onset congenital myopathy caused by a mutation in the RYR1 gene, central core disease
- Case 49 Bethlem myopathy
- Case 50 Myotonic dystrophy type 1, Curschmann–Steinert disease
- Case 51 Myotonic dystrophy type 2, proximal myotonic myopathy
- Case 52 Becker myotonia, chloride channelopathy
- Case 53 Glycogen storage disease type 2, Pompe disease
- Case 54 Glycogen storage disease type 5, McArdle disease
- Case 55 Mitochondrial disease: progressive external ophthalmoplegia
- Case 56 Myositis
- Case 57 Sporadic inclusion body myositis
- Case 58 Sarcoid myopathy
- Case 59 Hypothyroid myopathy
- Video legends
- Index
Case 44 - Miyoshi distal myopathy, dysferlin myopathy
a student with thinning of both calves
Published online by Cambridge University Press: 05 March 2013
- Neuromuscular Disease: A Case-Based Approach
- Neuromuscular Disease: A Case-Based Approach
- Copyright page
- Contents
- Preface
- Abbreviations
- Introduction: approach to the patient
- Case 1 Classic amyotrophic lateral sclerosis
- Case 2 Amyotrophic lateral sclerosis with frontotemporal dementia
- Case 3 Primary lateral sclerosis
- Case 4 Progressive muscular atrophy
- Case 5 Kennedy disease
- Case 6 Spinal muscular atrophy type 3, Kugelberg–Welander disease
- Case 7 Postpoliomyelitis syndrome
- Case 8 Spinal dural fistula
- Case 9 Charcot–Marie–Tooth disease type 1A
- Case 10 Hereditary neuropathy with liability to pressure palsy
- Case 11 Charcot–Marie–Tooth disease type 2A, mitofusinopathy
- Case 12 X-linked Charcot–Marie–Tooth disease
- Case 13 Hereditary sensory and autonomic neuropathy type 4
- Case 14 Guillain–Barré syndrome
- Case 15 Miller–Fisher syndrome
- Case 16 Chronic inflammatory demyelinating polyneuropathy
- Case 17 Multifocal motor neuropathy
- Case 18 Peripheral nerve hyperexcitability syndrome, Morvan’s syndrome
- Case 19 Vasculitic neuropathy
- Case 20 Neuropathy and ataxia caused by immunoglobulin-M gammopathy
- Case 21 Polyneuropathy, organomegaly, endocrine manifestations, monoclonal protein, and skin changes, POEMS
- Case 22 Subacute sensory paraneoplastic neuropathy and ganglionopathy
- Case 23 Neurolymphomatosis
- Case 24 Diabetic polyneuropathy
- Case 25 Alcoholic neuropathy
- Case 26 Human immunodeficiency virus neuropathy
- Case 27 Lyme radiculoneuritis
- Case 28 Lepromatous neuropathy
- Case 29 Toxic iatrogenic neuropathy
- Case 30 Idiopathic neuralgic amyotrophy
- Case 31 Small nerve fiber neuropathy
- Case 32 Critical illness polyneuropathy
- Case 33 Chronic idiopathic axonal polyneuropathy
- Case 34 Classic myasthenia gravis
- Case 35 Myasthenia gravis with autoantibodies to muscle-specific kinase
- Case 36 Lambert–Eaton myasthenic syndrome
- Case 37 Congenital myasthenic syndrome, slow channel syndrome
- Case 38 Becker muscular dystrophy
- Case 39 Caveolinopathy, including limb girdle muscular dystrophy type 1C
- Case 40 Limb girdle muscular dystrophy type 2A, calpainopathy
- Case 41 Limb girdle muscular dystrophy type 2I, fukutin-related protein deficiency
- Case 42 Emery–Dreifuss muscular dystrophy
- Case 43 Facioscapulohumeral dystrophy
- Case 44 Miyoshi distal myopathy, dysferlin myopathy
- Case 45 Distal myopathy with rimmed vacuoles, hereditary inclusion body myopathy
- Case 46 Oculopharyngeal muscular dystrophy
- Case 47 Myofibrillar myopathies: desminopathy
- Case 48 Late-onset congenital myopathy caused by a mutation in the RYR1 gene, central core disease
- Case 49 Bethlem myopathy
- Case 50 Myotonic dystrophy type 1, Curschmann–Steinert disease
- Case 51 Myotonic dystrophy type 2, proximal myotonic myopathy
- Case 52 Becker myotonia, chloride channelopathy
- Case 53 Glycogen storage disease type 2, Pompe disease
- Case 54 Glycogen storage disease type 5, McArdle disease
- Case 55 Mitochondrial disease: progressive external ophthalmoplegia
- Case 56 Myositis
- Case 57 Sporadic inclusion body myositis
- Case 58 Sarcoid myopathy
- Case 59 Hypothyroid myopathy
- Video legends
- Index
Summary
- Type
- Chapter
- Information
- Neuromuscular DiseaseA Case-Based Approach, pp. 128 - 132Publisher: Cambridge University PressPrint publication year: 2013