Case Studies in Neuromuscular Disorders, An Issue of Neurologic Clinics

1st Edition, Volume 38-3 - July 30, 2020
Editor: Aziz Shaibani
Language: English
Hardback ISBN:
9 7 8 - 0 - 3 2 3 - 6 9 7 7 1 - 2
eBook ISBN:
9 7 8 - 0 - 3 2 3 - 6 9 7 7 2 - 9

This issue of Neurologic Clinics, guest edited by Dr. Aziz Shaibani, is devoted to Case Studies in Neuromuscular Disorders. This issue is one of four selected each year by the… Read more

Case Studies in Neuromuscular Disorders, An Issue of Neurologic Clinics

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This issue of Neurologic Clinics, guest edited by Dr. Aziz Shaibani, is devoted to Case Studies in Neuromuscular Disorders. This issue is one of four selected each year by the series Consulting Editor, Dr. Randolph W. Evan. Articles in this issue include: Myotonia, Muscular Dystrophy, Spinal Muscular Atrophy, Advances in Clinical Genetics, FSHD New Diagnosis and Therapies, Congenital Myasthenic Syndrome, Diabetic Amyotrophy, ALS: Management Problems, Diagnostic and Therapeutic Challenges in Myasthenia Gravis, Scapular Winging, Small Fiber Neuropathy, Myopathies, Distal Myopathies, Inflammatory Myopathies, Muscle Cramps, Misdiagnosis of IBM, and Immune Mediated Neuropathies.

Cover image
Title page
Table of Contents
Copyright
Contributors
Forthcoming Issues
Preface
Skeletal Muscle Channelopathies
Key points
Introduction
Case A: an alternative
Case B: runs in the family
Case C: a treatment challenge
Case D: all muscle
Case E: fatigue
Supplementary data
Limb Girdle Muscular Dystrophies
Key points
Case 1
Case 2
Case 3
Case 4
Case 5
Treatment
Supplementary data
Spinal Muscular Atrophy in the Treatment Era
Key points
Introduction
Case: a delayed diagnosis
Case: an “asymptomatic” diagnosis
Case: treatment options
Case: nusinersen in adolescence
Case: diagnostic considerations in adults with spinal muscular atrophy
Case: challenges in treating adults with spinal muscular atrophy
Summary
Supplementary data
Advances in the Genetic Testing of Neuromuscular Diseases
Key points
Introduction
Case 1: mosaicism
Case 2: intronic mutations revealed through transcriptome analysis
Case 3: whole genome analysis reveals a rearrangement
Case 4: gene discovery through whole-exome sequencing
Case 5: mitochondrial mosaicism
Summary
Supplementary data
Case Studies on the Genetic and Clinical Diagnosis of Facioscapulohumeral Muscular Dystrophy
Key points
Introduction
Case 1: double trouble
Discussion
Case 2: the complexity of genetic testing
The genetic and clinical spectrum of facioscapulohumeral muscular dystrophy
Case 4: facioscapulohumeral muscular dystrophy mimics
Case 5: challenges of genetic variants of unknown significance
Summary
Congenital Myasthenic Syndromes
Key points
Introduction
Cases
Summary
Diabetic Lumbosacral Radiculoplexus Neuropathy (Diabetic Amyotrophy)
Key points
Introduction
Case 1: unilateral lower extremity pain and weakness in a diabetic patient
Case 2: bilateral lower extremity weakness in association with liver disease
Case 3: painless progressive weakness
Case 4: progressive weakness of all extremities
Case 5: possible vasculitic neuropathy
Summary
Supplementary data
ALS: Management Problems
Key points
Introduction
Case 1: progressive neuromuscular respiratory failure
Case 2: ineffective cough and secretion management
Case 3: dysarthria
Case 4: dysphagia
Case 5: pseudobulbar affect
Case 6: spasticity
Supplementary data
Therapeutic and Diagnostic Challenges in Myasthenia Gravis
Key points
Introduction
Case 1: recurrent ptosis after oculoplastic surgery
Case 2: rapid presentation of myasthenia gravis symptoms
Case 3: a woman who became weak while she was pregnant
Case 4: a young man with myasthenia gravis and a complex course of treatments
Case 5: a woman with anti-muscle-specific tyrosine kinase myasthenia gravis that did not respond to conventional treatment
Summary
Refractory Chronic Immune-mediated Demyelinating Polyneuropathy
Key points
Introduction
Cases
Polyneuropathy, organomegaly, endocrinopathy, monoclonal protein, and skin changes syndrome
Summary
Disclosure
Supplementary data
Small Fiber Neuropathy
Key points
Introduction
Case 1
Case 2
Case 3
Case 4
Case 5
Case 6
Case 7
Summary
Other Myopathies
Key points
Toxic myopathies
Summary
Metabolic myopathies
Mitochondrial myopathies
Congenital myopathies
Supplementary data
Distal Myopathies
Key points
Introduction
Evaluation
Case 1
Case 2
Case 3
Case 4
Case 5
Case 6
Care and treatment
Summary
Inflammatory Myopathies: Utility of Antibody Testing
Key points
Case clinical presentation 1
Diagnostic studies
Treatment and definitive diagnosis
Discussion
Case clinical presentation 2
Diagnostic studies
Treatment and definitive diagnosis
Discussion
Case clinical presentation 3
Diagnostic studies
Treatment and definitive diagnosis
Discussion
Case clinical presentation 4
Diagnostic studies
Treatment and definitive diagnosis
Discussion
Case clinical presentation 5
Diagnostic studies
Treatment and definitive diagnosis
Discussion
Case clinical presentation 6
Diagnostic studies
Treatment and definitive diagnosis
Discussion
Supplementary data
Case Studies in Management of Muscle Cramps
Key points
Introduction
Case 1
Case 2
Case 3
Case 4
Case 5
Case 6
Summary
Supplementary data
Differential Diagnoses of Inclusion Body Myositis
Key points
Introduction
Case A: a lump in the throat
Case B: third time lucky
Case C: an uphill battle
Case D: not what it seems
Case E: pursuing a diagnosis
Summary
Immune-Mediated Neuropathies
Key points
Case 1. A New Year’s eve to remember
Case 2. A man with double vision and gait imbalance
Case 3. The 61-year-old banker with diabetes with progressive weakness
Case 4. A 68-year-old with left hand weakness
Case 5. The 40-year-old with relentlessly progressive weakness
Case 6. The 55-year-old with painful foot drop
Case 7. The ataxic, dyspneic patient
Supplementary data