
Contents
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Myopathy Myopathy
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Dystrophies Dystrophies
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Dystrophia Myotonica Type 1 Dystrophia Myotonica Type 1
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Presentation Presentation
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Examination Examination
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Red Flags Red Flags
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Dystrophia Myotonica Type II Dystrophia Myotonica Type II
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Duchenne Muscular Dystrophy Duchenne Muscular Dystrophy
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Red Flags Red Flags
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Becker Muscular Dystrophy Becker Muscular Dystrophy
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Fascioscapulohumeral Muscular Dystrophy Fascioscapulohumeral Muscular Dystrophy
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Main Differentials for FSHMD Main Differentials for FSHMD
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Limb Girdle Muscular Dystrophy Limb Girdle Muscular Dystrophy
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Red Flags for LGMD Red Flags for LGMD
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Emery-Dreifuss Muscular Dystrophy Emery-Dreifuss Muscular Dystrophy
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Oculopharyngeal Muscular Dystrophy Oculopharyngeal Muscular Dystrophy
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Further Myopathy Handles Further Myopathy Handles
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Dropped Head Sign Dropped Head Sign
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Neuromuscular Junction Disorders Neuromuscular Junction Disorders
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Classic Myasthenia Gravis Classic Myasthenia Gravis
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Red Flags for MG Red Flags for MG
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Other Clues for Congenital Myasthenia Gravis Other Clues for Congenital Myasthenia Gravis
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Lambert Eaton Myasthenic Syndrome Lambert Eaton Myasthenic Syndrome
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History History
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Examination Examination
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Inflammatory Myopathies Inflammatory Myopathies
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Chronic Polymyositis Chronic Polymyositis
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Inclusion Body Myositis Inclusion Body Myositis
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Dysthyroid Myopathies Dysthyroid Myopathies
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Myxedema Myopathy Myxedema Myopathy
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Thyrotoxic Myopathy Thyrotoxic Myopathy
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Periodic Paralysis Periodic Paralysis
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McArdle’s Syndrome McArdle’s Syndrome
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Mitochondrial Myopathies Mitochondrial Myopathies
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Disorders Mistaken for Mitochondrial Myopathies Disorders Mistaken for Mitochondrial Myopathies
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Distal Myopathies Distal Myopathies
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Medication-Induced Myopathies Medication-Induced Myopathies
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Miscellaneous Disorders Miscellaneous Disorders
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Myopathy with Deafness Myopathy with Deafness
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Miscellaneous Handles in Myopathy Miscellaneous Handles in Myopathy
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Motor Neuron Disorders Motor Neuron Disorders
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Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis
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Handles for Unusual Presentations of ALS Handles for Unusual Presentations of ALS
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ALS Mimics ALS Mimics
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FASIC Syndrome FASIC Syndrome
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Syringomyelia Syringomyelia
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Cervical Spondylotic Myeloradiculopathy Cervical Spondylotic Myeloradiculopathy
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Cramp-Fasciculation Syndrome Cramp-Fasciculation Syndrome
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Man-in-a-Barrel Syndrome Man-in-a-Barrel Syndrome
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Hirayama Syndrome or Monomelic Motor Neuron Disease Hirayama Syndrome or Monomelic Motor Neuron Disease
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MRI Signs in ALS MRI Signs in ALS
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Red Flags for ALS Red Flags for ALS
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Bulbar Palsies Bulbar Palsies
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Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis
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Kennedy Syndrome Kennedy Syndrome
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Adult Onset Hexosaminidase A Deficiency Adult Onset Hexosaminidase A Deficiency
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Progressive Bulbar Palsy and Sensorineural Deafness Progressive Bulbar Palsy and Sensorineural Deafness
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Hereditary Spastic Paraplegias Hereditary Spastic Paraplegias
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Summary Summary
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Myopathy Myopathy
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Dystrophia Myotonica Type 1 Dystrophia Myotonica Type 1
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Red Flags Red Flags
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Dystrophia Myotonica Type II Dystrophia Myotonica Type II
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Duchenne Muscular Dystrophy Duchenne Muscular Dystrophy
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Red Flags Red Flags
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Becker Muscular Dystrophy Becker Muscular Dystrophy
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Facioscapulohumeral Muscular Dystrophy Facioscapulohumeral Muscular Dystrophy
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Red Flags Red Flags
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Differential Diagnosis for FSHMD Differential Diagnosis for FSHMD
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Differential Diagnosis for Scapular Winging Differential Diagnosis for Scapular Winging
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Limb Girdle Muscular Dystrophy Limb Girdle Muscular Dystrophy
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Red Flags for LGMD Red Flags for LGMD
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Emery-Dreifuss Muscular Dystrophy Emery-Dreifuss Muscular Dystrophy
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Oculopharyngeal Muscular Dystrophy Oculopharyngeal Muscular Dystrophy
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Further Myopathy Handles Further Myopathy Handles
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Dropped Head Sign Dropped Head Sign
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Neuromuscular Junction Disorders Neuromuscular Junction Disorders
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Myasthenia Gravis Myasthenia Gravis
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Red Flags for Myasthenia Gravis Red Flags for Myasthenia Gravis
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Other Clues for Congenital Myasthenia Gravis Other Clues for Congenital Myasthenia Gravis
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Lambert-Eaton Myasthenic Syndrome Lambert-Eaton Myasthenic Syndrome
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Examination Examination
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Inflammatory Myopathies Inflammatory Myopathies
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Chronic Polymyositis Chronic Polymyositis
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Red Flags Red Flags
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Inclusion Body Myositis Inclusion Body Myositis
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Dysthyroid Myopathies Dysthyroid Myopathies
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Myxedematous Myxedematous
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Thyrotoxic Thyrotoxic
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Periodic Paralysis Periodic Paralysis
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McArdle’s Syndrome McArdle’s Syndrome
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Mitochondrial Myopathies Mitochondrial Myopathies
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Disorders Mistaken for Mitochondrial Myopathies Disorders Mistaken for Mitochondrial Myopathies
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Distal Myopathies Distal Myopathies
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Medication-Induced Myopathies Medication-Induced Myopathies
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Myopathy with Deafness Myopathy with Deafness
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Other Myopathy Handles Other Myopathy Handles
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Motor Neuron Disorders Motor Neuron Disorders
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Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis
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Unusual Presentations of ALS Unusual Presentations of ALS
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ALS Mimics ALS Mimics
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MRI Signs MRI Signs
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Red Flags for ALS Red Flags for ALS
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Bulbar Palsies Bulbar Palsies
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In ALS In ALS
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Other Bulbar Palsies Other Bulbar Palsies
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Hereditary Spastic Paraplegia (HSP; Classic Form) Hereditary Spastic Paraplegia (HSP; Classic Form)
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Mimics Mimics
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HSP Dominant Variants HSP Dominant Variants
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Suggested Reading Suggested Reading
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7: Myopathy and Motor Neuron Disorders
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Published:May 2019
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Abstract
The first part of this chapter deals with the main varieties of muscular dystrophy and their differential diagnosis, many of which are instantly recognizable. Handles are given for the main neuromuscular junction disorders including, myasthenia gravis and Lambert-Eaton myasthenic syndrome. Inflammatory and dysthyroid myopathies are evaluated. Also appraised are periodic paralysis, McArdle’s syndrome, and mitochondrial, distal, and medication-induced myopathy. In the second section, motor neuron disorders are discussed, in particular the characteristic features of amyotrophic lateral sclerosis and its mimics as well as various forms of bulbar palsy. Hereditary spastic paraplegia and its variants are discussed and how they can simulate other diseases.
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