Neuromuscular Disorders: A Comprehensive Review with Illustrative Cases

Foreword: Edition 2
Foreword: Edition 1
Preface: Edition 2
Preface: Edition 1
Acknowledgements
Contents
About the Authors
Part I: Approach to a Neuromuscular Case
Chapter 1: Neuromuscular Disorders: A Clinical Approach
	1.1 History and Examination in Neuromuscular Disorders
	1.2 Family History
	1.3 Gait, Stance, and Posture
	1.4 Weakness
	1.5 Cramps, Pains, Fatigue, and Exertional Symptoms
	1.6 Hypertrophy and Atrophy
	1.7 Myotonia
	1.8 Sensory Features
	1.9 Tendon Reflexes
	1.10 Differentiating Anterior Horn Cell Diseases from Myopathies
	1.11 General Examination
	1.12 Concluding Remarks
	1.13 Organization of this Book
Part II: Basic Principles
Chapter 2: Electrophysiology
	2.1 Principles of Electrodiagnosis
	2.2 Basic Principles and Indications
	2.3 Terminology
	2.4 Types and Choices of Available Tests
	2.5 Challenges in the Interpretations
	2.6 Advantages
	2.7 Limitations
Chapter 3: Histopathology
	3.1 Nerve and Muscle Biopsies
		3.1.1 Muscle Biopsy (Walters 2020)
		3.1.2 Nerve Biopsy (Barutçuoğlu et al. 2023)
	References
Chapter 4: Genetics
	4.1 Principles of Genetic Testing
		4.1.1 Basic Principles
	References
Chapter 5: Basic Principles of Immunotherapy
	References
Chapter 6: Principles of Rehabilitation in Neuromuscular Disorders
	6.1 Principles of Rehabilitation
	6.2 Home Rehabilitation
	References
Part III: Motor Weakness: Asymmetric—UMN and LMN Signs and Fasciculation
Chapter 7: Motor Neuron Diseases: Amyotrophic Lateral Sclerosis
	7.1 Introduction
	7.2 Epidemiology
	7.3 Clinical Features
		7.3.1 Symptoms of ALS
		7.3.2 Clinical Signs of ALS
		7.3.3 Regional Variants of ALS
		7.3.4 Clinical Spectra of MND
			7.3.4.1 PMA and PLS
			7.3.4.2 ALS and Cognitive and Behavior Changes
			7.3.4.3 ALS with Multisystem Involvement
		7.3.5 Diagnosis of ALS
	7.4 Pathophysiology
	7.5 Investigations
		7.5.1 Electrodiagnosis
		7.5.2 Pulmonary Function
		7.5.3 MRI and PET Study: (Goutman et al. 2022b)
		7.5.4 Secondary ALS
	7.6 Differential Diagnosis
	7.7 Management
		7.7.1 Molecules: Approved and in Development
		7.7.2 Gene Therapy Efforts
		7.7.3 Antibody-Mediated Efforts
		7.7.4 Immune Targeting
		7.7.5 Stem Cells
		7.7.6 Symptomatic Therapy
		7.7.7 Exercises in ALS and Adaptive Equipment
		7.7.8 Dealing with Patients and Families Having ALS
		7.7.9 Alternative Therapies and End-of-Life Issues
	7.8 Prognosis
	7.9 Case Study
	References
Part IV: Motor Weakness: Asymmetric—LMN Only
Chapter 8: Post-Polio Syndrome
	8.1 Introduction
	8.2 Epidemiology
	8.3 Clinical Features
	8.4 Pathophysiology
	8.5 Investigations
	8.6 Differential Diagnosis
	8.7 Management
		8.7.1 Rehabilitation and Orthotics
		8.7.2 Pharmacological Measures
	8.8 Prognosis
	References
Chapter 9: Hirayama Disease and Other Focal Amyotrophies
	9.1 Hirayama Disease [HD]
		9.1.1 Introduction
		9.1.2 Epidemiology
		9.1.3 Clinical Features
		9.1.4 Pathophysiology
			9.1.4.1 Disproportionate Growth of Dural Sac Leading to Anterior Dural Displacement Causing Dynamic Compression of Cord
			9.1.4.2 Disproportionate Growth of Cervical Spine
			9.1.4.3 Increased Range of Neck Flexion
			9.1.4.4 Venous Dysplasia
			9.1.4.5 Intrinsic Anterior Horn Cell Disease
			9.1.4.6 Toxin-Induced Amyotrophy
			9.1.4.7 Immunological Mechanisms
		9.1.5 Investigations
			9.1.5.1 Plain X-Ray Cervical Spine
			9.1.5.2 Electrophysiology
			9.1.5.3 MRI Cervical Spine
		9.1.6 Differential Diagnosis
		9.1.7 Management
			9.1.7.1 Cervical Collar
			9.1.7.2 Surgical Methods
			9.1.7.3 Rehabilitation
		9.1.8 Prognosis
	9.2 Crural Amyotrophy (Wasted Leg Syndrome)
	9.3 Proximal Segmental Upper Limb Amyotrophy (Brachial Amyotrophic Diplegia)
	References
Chapter 10: Progressive Muscular Atrophy
	10.1 Introduction
	10.2 Epidemiology
	10.3 Clinical Features
	10.4 Pathophysiology
	10.5 Investigations
	10.6 Differential Diagnosis
	10.7 Management
	10.8 Prognosis
	References
Chapter 11: Acute Motor Axonal Neuropathy (AMAN)
	11.1 Introduction
	11.2 Epidemiology
	11.3 Clinical Features
	11.4 Pathophysiology
	11.5 Investigations
		11.5.1 Electrophysiology
		11.5.2 Antibodies
	11.6 Differential Diagnosis
	11.7 Management
	11.8 Prognosis
	References
Chapter 12: Multifocal Motor Neuropathy (MMN)
	12.1 Introduction
	12.2 Epidemiology
	12.3 Clinical Features
	12.4 Pathophysiology
	12.5 Investigations
		12.5.1 CSF Study
		12.5.2 Electrophysiology
		12.5.3 Imaging
		12.5.4 Antibodies
	12.6 Differential Diagnosis (Table 12.1)
	12.7 Management
	12.8 Prognosis
	12.9 Case Study
	References
Chapter 13: Facioscapulohumeral Dystrophy
	13.1 Introduction
	13.2 Epidemiology
	13.3 Clinical Features
	13.4 Pathophysiology
	13.5 Investigations
	13.6 Differential Diagnosis
	13.7 Management
	13.8 Prognosis
	13.9 Other Scapuloperoneal Syndromes
	References
Part V: Motor Weakness: Symmetric—Proximal
Chapter 14: Spinal Muscular Atrophy
	14.1 Introduction
	14.2 Epidemiology
	14.3 Clinical Features
		14.3.1 SMA
			14.3.1.1 SMA 0
			14.3.1.2 SMA 1
			14.3.1.3 SMA 2 (Dubowitz)
			14.3.1.4 SMA 3
			14.3.1.5 SMA 4
		14.3.2 X-Linked Spinobulbar Muscular Atrophy (SBMA)
	14.4 Pathophysiology
		14.4.1 Genetics of SMA
		14.4.2 Genetics of SBMA
		14.4.3 Mutations in Genes Other Than SMN 1
	14.5 Investigations
		14.5.1 SMA
		14.5.2 X-Linked SBMA
	14.6 Differential Diagnosis
		14.6.1 Early-Onset SMA
		14.6.2 Adult-Onset SMA
	14.7 Management
	14.8 Prognosis
	References
Chapter 15: Porphyrias
	15.1 Introduction
	15.2 Epidemiology
	15.3 Clinical Features
	15.4 Pathophysiology
	15.5 Investigations
	15.6 Differential Diagnosis
	15.7 Management
	15.8 Prognosis
	References
Chapter 16: Congenital Myasthenic Syndromes
	16.1 Introduction
	16.2 Common Subtypes of CMS
		16.2.1 Epidemiology
		16.2.2 Clinical Features
		16.2.3 Pathophysiology
		16.2.4 Investigations
		16.2.5 Differential Diagnosis
		16.2.6 Management
			16.2.6.1 Medications
			16.2.6.2 Supportive Management
		16.2.7 Prognosis
	16.3 Rare Forms of CMS
	References
Chapter 17: Dystrophinopathies: Duchenne and Becker Muscular Dystrophies
	17.1 Introduction
	17.2 Epidemiology
	17.3 Clinical Features
		17.3.1 DMD (Table 17.1)
		17.3.2 Becker Muscular Dystrophy (BMD)
		17.3.3 Examination of the Mothers of Affected Boys
		17.3.4 Other Phenotypes Associated with Dystrophinopathies
	17.4 Pathophysiology
	17.5 Investigations
		17.5.1 Biochemistry
		17.5.2 Electrocardiography
		17.5.3 Genetic Evaluations (Table 17.2)
		17.5.4 Electrophysiology
		17.5.5 Imaging
		17.5.6 Muscle Biopsy
	17.6 Differential Diagnosis
	17.7 Management
		17.7.1 General Management and Surveillance (Table 17.4)
		17.7.2 Corticosteroid Therapy (Gloss et al. 2016)
		17.7.3 Stop Codon Read-Through
		17.7.4 Antisense Oligo-Nucleotides [AON]-Mediated Exon-Skipping Therapy
		17.7.5 Vector-Mediated Gene Therapy
		17.7.6 CRISPR/Cas9-Mediated Gene Editing
		17.7.7 Exogenous Cell Transplantation
		17.7.8 Other Molecules
	17.8 Prognosis
	17.9 Case Study
	References
Chapter 18: Limb-Girdle Muscular Dystrophies
	18.1 Introduction
	18.2 Epidemiology
	18.3 Commonly Reported LGMDs
		18.3.1 Clinical Features
		18.3.2 Pathophysiology
		18.3.3 Investigations
		18.3.4 Differential Diagnosis
		18.3.5 Management
		18.3.6 Prognosis
	18.4 Uncommonly Reported LGMDs
	References
Chapter 19: Emery-Dreifuss Muscular Dystrophy (EDMD)
	19.1 Introduction
	19.2 Epidemiology
	19.3 Clinical Features
	19.4 Pathophysiology
	19.5 Diagnosis
	19.6 Differential Diagnosis
	19.7 Management
	19.8 Prognosis
	References
Chapter 20: Oculopharyngeal Muscular Dystrophy (OPMD)
	20.1 Introduction
	20.2 Epidemiology
	20.3 Clinical Features
	20.4 Pathophysiology
	20.5 Investigations
	20.6 Differential Diagnosis
	20.7 Management
		20.7.1 Surgical Correction of Ptosis
		20.7.2 Management of Dysphagia
		20.7.3 Newer Advances in Treatment
	20.8 Prognosis
	References
Chapter 21: Congenital Muscular Dystrophies
	21.1 Introduction
	21.2 Epidemiology
	21.3 Clinical Features
	21.4 Pathophysiology
	21.5 Investigations
	21.6 Differential Diagnosis
	21.7 Management
	21.8 Prognosis
	References
Chapter 22: Congenital Myopathies
	22.1 Introduction
	22.2 Epidemiology
	22.3 Clinical Features
	22.4 Pathophysiology (Ravenscroft et al. 2015)
	22.5 Investigations
	22.6 Differential Diagnosis
	22.7 Management
	22.8 Prognosis
	References
Chapter 23: Inflammatory Myopathies
	23.1 Introduction
	23.2 Epidemiology
	23.3 Clinical Features
	23.4 Pathophysiology
	23.5 Investigations
		23.5.1 Muscle Biopsy
		23.5.2 Antibody Studies (Table 23.5)
		23.5.3 Inclusion Body Myositis
	23.6 Differential Diagnosis
	23.7 Management
		23.7.1 Corticosteroids
		23.7.2 Other Immunosuppressants
		23.7.3 Interstitial Lung Disease
		23.7.4 Inclusion Body Myositis
		23.7.5 Rehabilitation
		23.7.6 Skin Care
		23.7.7 Pregnancy
		23.7.8 Mental Health
	23.8 Prognosis
	23.9 Case Study
	References
Part VI: Motor Weakness: Symmetric—Distal
Chapter 24: Distal Hereditary Motor Neuropathy (dHMN)
	24.1 Introduction
	24.2 Epidemiology
	24.3 Clinical Features
	24.4 Pathophysiology
	24.5 Investigations
	24.6 Differential Diagnosis
	24.7 Management
	24.8 Prognosis
	24.9 Case Study
	References
Chapter 25: Distal Myopathies
	25.1 Introduction
	25.2 Classic Distal Myopathies
		25.2.1 Epidemiology
		25.2.2 Clinical Features
		25.2.3 Pathophysiology
		25.2.4 Investigations
		25.2.5 Differential Diagnosis
		25.2.6 Management
			25.2.6.1 Definitive Treatment
		25.2.7 Prognosis
	25.3 Myofibrillar Myopathy (MFM)
	25.4 Other Uncommon Distal Myopathies
	References
Chapter 26: Myotonic Dystrophies
	26.1 Introduction
	26.2 Epidemiology
	26.3 Clinical Features
		26.3.1 DM 1
			26.3.1.1 Congenital DM 1 (CDM)
			26.3.1.2 Classical DM 1
			26.3.1.3 Mild DM 1
		26.3.2 DM 2
	26.4 Pathophysiology
		26.4.1 DM 1
		26.4.2 DM 2
	26.5 Investigations
		26.5.1 DM 1
		26.5.2 DM 2
	26.6 Differential Diagnosis
	26.7 Management
		26.7.1 Cardiac Arrhythmias
		26.7.2 Respiratory Compromise
		26.7.3 Myotonia
		26.7.4 Cataract
		26.7.5 Exercise
		26.7.6 Dehydroepiandrosterone
		26.7.7 Prenatal Genetic Testing
		26.7.8 Therapeutic Strategies
	26.8 Prognosis
	References
Chapter 27: Brown Vialetto Van Laere [BVVL] Syndrome
	27.1 Introduction
	27.2 Epidemiology
	27.3 Clinical Features
	27.4 Pathophysiology
	27.5 Investigations
	27.6 Differential Diagnosis
	27.7 Management
	27.8 Prognosis
	References
Part VII: Motor Weakness: Fluctuating Weakness
Chapter 28: Myasthenia Gravis
	28.1 Introduction
	28.2 Epidemiology
	28.3 Clinical Features
	28.4 Pathophysiology
		28.4.1 Neuromuscular (N-M) Junction in MG
		28.4.2 Role of the Thymus in MG
	28.5 Investigations
		28.5.1 Ice-Pack Test
		28.5.2 Repetitive Nerve Stimulation (RNS)
		28.5.3 Tensilon or Neostigmine Test
		28.5.4 Antibody Tests
		28.5.5 SFEMG
	28.6 Differential Diagnosis
	28.7 Management
	28.8 Prognosis
	References
Chapter 29: Lambert–Eaton Myasthenic Syndrome
	29.1 Introduction
	29.2 Epidemiology
	29.3 Clinical Features
	29.4 Pathophysiology
	29.5 Investigations
		29.5.1 Electrophysiology
		29.5.2 Serological Markers
		29.5.3 Imaging
	29.6 Differential Diagnosis
	29.7 Management
		29.7.1 Symptomatic Treatment
		29.7.2 Immunosuppression
		29.7.3 Antitumor Therapy
	29.8 Prognosis
	29.9 Myasthenia Gravis Lambert–Eaton Overlap Syndrome (MLOS)
		29.9.1 ICI-Related LEMS
	References
Chapter 30: Periodic Paralyses
	30.1 Introduction
	30.2 Epidemiology
	30.3 Clinical Features
	30.4 Pathophysiology
	30.5 Investigations
	30.6 Differential Diagnosis
	30.7 Management
	30.8 Prognosis
	References
Part VIII: Motor Weakness: Exercise Intolerance
Chapter 31: Metabolic Myopathies
	31.1 Introduction
	31.2 Epidemiology
	31.3 Clinical Features
		31.3.1 Glycogen and Lipid Storage Disease
		31.3.2 Mitochondrial Diseases
	31.4 Pathophysiology
	31.5 Investigations
	31.6 Differential Diagnosis (Table 31.5)
	31.7 Management
	31.8 Prognosis
	31.9 Case Study
	References
Part IX: Motor Weakness: Muscle Stiffness, Cramps, Spasms, Rigidity, or Contracture
Chapter 32: Peripheral Nerve Hyperexcitability Syndromes
	32.1 Introduction
	32.2 Epidemiology
	32.3 Clinical Features
	32.4 Pathophysiology
	32.5 Investigations
	32.6 Differential Diagnosis
	32.7 Management
		32.7.1 Membrane Stabilizers
		32.7.2 Immunotherapy
		32.7.3 Etiological Treatment
	32.8 Prognosis
	32.9 Satoyoshi Syndrome
	32.10 Ocular Neuromyotonia
	References
Chapter 33: Stiff Person Syndrome (SPS)
	33.1 Introduction
	33.2 Epidemiology
	33.3 Clinical Features
	33.4 Immunopathogenesis
	33.5 Diagnostic Workup
	33.6 Differential Diagnosis
	33.7 Therapy
	33.8 Prognosis
	References
Chapter 34: Nondystrophic Myotonic Disorders
	34.1 Introduction
	34.2 Myotonia Congenita (MC)
		34.2.1 Epidemiology
		34.2.2 Clinical Features
		34.2.3 Pathophysiology
		34.2.4 Investigations
		34.2.5 Differential Diagnosis
		34.2.6 Management
		34.2.7 Prognosis
	34.3 Paramyotonia Congenita (PMC)
	34.4 Hyperkalemic Periodic Paralysis (hyperKPP) with Myotonia
	34.5 Potassium-Aggravated Myotonias (PAM)
	34.6 Severe Neonatal Episodic Laryngospasm (SNEL)
	34.7 Myotonia Levior
	34.8 Brody’s Disease
	34.9 Schwartz-Jampel Syndrome (SJS)
	References
Part X: Sensory Motor Weakness: Asymmetric
Chapter 35: Individual Mononeuropathies
	35.1 Introduction
	35.2 Management
		35.2.1 General Management
		35.2.2 Specific Therapies
	References
		Further Reading
Chapter 36: Mononeuritis Multiplex: Vasculitis (Systemic, Nonsystemic) Neuropathies
	36.1 Introduction
	36.2 Epidemiology
	36.3 Clinical Features
	36.4 Pathophysiology
	36.5 Investigations
		36.5.1 Significance of Blood Tests
		36.5.2 Electrodiagnosis
		36.5.3 CSF Study
		36.5.4 Histopathology
			36.5.4.1 Biopsy Site
			36.5.4.2 Findings
		36.5.5 Muscle and Nerve MRI or Ultrasound
	36.6 Differential Diagnosis
	36.7 Management
		36.7.1 Remission-Induction Therapy
		36.7.2 Remission Maintenance Therapy
		36.7.3 Refractory Cases
		36.7.4 Newer Drugs
		36.7.5 Management of Systemic Autoimmune Rheumatic Disease in Brief (Table 36.6)
		36.7.6 Monitoring
		36.7.7 Symptomatic Management of Neuropathic Pain
		36.7.8 Role of Genetics
	36.8 Prognosis
	36.9 Case Study
	References
Chapter 37: Mononeuritis Multiplex: Multifocal Acquired Demyelinating Sensory and Motor Neuropathy (MADSAM)
	37.1 Introduction
	37.2 Clinical Features
	37.3 Pathophysiology
	37.4 Investigations
	37.5 Differential Diagnosis
	37.6 Management
	37.7 Prognosis
	References
Chapter 38: Mononeuritis Multiplex: Leprosy
	38.1 Introduction
	38.2 Epidemiology
	38.3 Clinical Features
	38.4 Pathophysiology
	38.5 Investigations
	38.6 Differential Diagnosis
	38.7 Management
		38.7.1 Medications
		38.7.2 Management of Disabilities
	38.8 Prognosis
	References
Chapter 39: Chronic Immune Polyradiculopathies
	39.1 Introduction
	39.2 Epidemiology
	39.3 Clinical Features
	39.4 Pathophysiology
	39.5 Investigations
	39.6 Differential Diagnosis
	39.7 Management
	39.8 Prognosis
	References
Chapter 40: Compressive Radiculopathies
	40.1 Introduction
	40.2 Clinical Features
	40.3 Investigations
	40.4 Differential Diagnosis (Table 40.3)
	40.5 Management
	40.6 Prognosis
	References
Chapter 41: Brachial Plexopathy
	41.1 Introduction
	41.2 Epidemiology
	41.3 Clinical Features
		41.3.1 Supraclavicular Plexopathy
		41.3.2 Neuralgic Amyotrophy
		41.3.3 Hereditary Neuralgic Amyotrophy (HNA)
		41.3.4 Rucksack Paralysis (Backpack Palsy or Cadet Palsy)
		41.3.5 Burner and Stinger Syndrome
		41.3.6 Obstetric Brachial Plexopathy (OBPP)
		41.3.7 Neoplastic Plexopathy
		41.3.8 Radiation Plexopathy
		41.3.9 Neurogenic Thoracic Outlet Syndrome
		41.3.10 Postmedian Sternotomy Brachial Plexopathy
		41.3.11 Compartmental Syndrome
	41.4 Pathophysiology and Anatomy
	41.5 Investigations
		41.5.1 Electrodiagnosis
		41.5.2 Radiodiagnosis
	41.6 Differential Diagnosis (Table 41.5)
	41.7 Management
	41.8 Prognosis
	41.9 Case Study
	References
Chapter 42: Lumbosacral Plexopathy
	42.1 Introduction
	42.2 Epidemiology
	42.3 Clinical Features
	42.4 Relevant Anatomy and Pathophysiology
	42.5 Investigations
	42.6 Differential Diagnosis
	42.7 Management
	42.8 Prognosis
	42.9 Case Study
	References
Chapter 43: Hereditary Neuropathy with Pressure Palsy (HNPP)
	43.1 Introduction
	43.2 Epidemiology
	43.3 Clinical Features
	43.4 Pathophysiology
	43.5 Investigations
		43.5.1 Electrodiagnostic Tests
		43.5.2 Nerve Biopsy
		43.5.3 MRI Imaging
		43.5.4 Genetic Study
	43.6 Differential Diagnosis
	43.7 Management
	43.8 Prognosis
	References
Part XI: Sensory Motor Weakness: Symmetric
Chapter 44: Hereditary Motor Sensory Neuropathies (HMSN)/Charcot-Marie-Tooth Disease (CMT)
	44.1 Introduction
	44.2 Classification
	44.3 Epidemiology
	44.4 Clinical Features
	44.5 Investigations
		44.5.1 Electrodiagnostic Studies (EDX)
		44.5.2 Cerebrospinal Fluid (CSF)
		44.5.3 Neuromuscular Ultrasound
		44.5.4 Neuromuscular MRI
		44.5.5 Nerve Biopsy
		44.5.6 Genetic Testing
	44.6 Differential Diagnosis (Table 44.5)
	44.7 Management
		44.7.1 Physical Therapy and Rehabilitation
		44.7.2 Exercise
		44.7.3 Role of Surgery
		44.7.4 Pediatric Considerations
		44.7.5 Putative Therapies
	44.8 Prognosis
	44.9 Case Study
	References
Chapter 45: Guillain-Barré Syndrome (GBS)
	45.1 Introduction
	45.2 Epidemiology
	45.3 Clinical Features
		45.3.1 Antecedent Events
		45.3.2 Classical GBS
		45.3.3 GBS Subtypes (Table 45.2)
		45.3.4 Red Flags for Diagnosis
		45.3.5 Anti-Neurofascin 155 Associated GBS
	45.4 Pathophysiology
	45.5 Investigations
		45.5.1 Electrophysiological Study
		45.5.2 CSF Study
		45.5.3 Antibodies
	45.6 Differential Diagnosis (Table 45.3)
	45.7 Management
		45.7.1 General Measures
		45.7.2 Immunological Therapy
		45.7.3 Tracheostomy and Ventilation
		45.7.4 Autonomic Dysfunction
	45.8 Prognosis
	45.9 Case Study
	References
Chapter 46: Chronic Inflammatory Demyelinating Polyradiculoneuropathy (CIDP)
	46.1 Introduction
	46.2 Epidemiology
	46.3 Clinical Features
		46.3.1 Sensory CIDP
		46.3.2 Motor CIDP
		46.3.3 Focal CIDP
		46.3.4 MADSAM
		46.3.5 DADS
		46.3.6 CIDP with IgG4 Antibodies
		46.3.7 CISP, CIMP, and CISMP
		46.3.8 CIDP in Association with Diabetes and Myeloma
	46.4 Pathophysiology
	46.5 Investigations
		46.5.1 Diagnostic Criteria
		46.5.2 Electrophysiological Study
		46.5.3 Ultrasound
		46.5.4 CSF Study
		46.5.5 MRI Neurography
		46.5.6 Serum Nodal and Paranodal Protein Autoantibodies
		46.5.7 Nerve Biopsy
	46.6 Differential Diagnosis
	46.7 Management
	46.8 Prognosis
	46.9 Case Study
	References
Chapter 47: X-Linked Form of Charcot-Marie-Tooth Disease (CMT X)
	47.1 Introduction
	47.2 Epidemiology
	47.3 Clinical Features
	47.4 Pathophysiology
	47.5 Investigations
		47.5.1 Electrophysiological Study
		47.5.2 Nerve Biopsy
		47.5.3 MRI Brain
	47.6 Differential Diagnosis
	47.7 Management
	47.8 Prognosis
	References
Chapter 48: Other Inherited Neuropathies I
	48.1 Introduction
	48.2 Epidemiology
	48.3 Neuropathies Secondary to Inherited Metabolic Disorders
		48.3.1 Familial Amyloid Polyneuropathy (FAP)
		48.3.2 Other Inherited Metabolic Disorders
	48.4 Neuropathies Associated with Leukodystrophies
	48.5 Neuropathies Associated with Hereditary Ataxias
	48.6 Investigations
	48.7 Differential Diagnosis (Table 48.11)
	48.8 Management
		48.8.1 Supportive Management
		48.8.2 Surgical Treatment
		48.8.3 Specific Treatment
	48.9 Prognosis
	References
Chapter 49: Other Inherited Neuropathies II
	49.1 Mitochondrial Diseases with Peripheral Neuropathy
		49.1.1 Pathogenesis
	49.2 Hereditary Sensory Autonomic Neuropathy (HSAN)
	49.3 Hereditary Spastic Paraplegia (HSP)
	49.4 Uncommon Inherited Neuropathies
	49.5 Investigations
	49.6 Management
	49.7 Prognosis
	49.8 Case Studies
	References
Chapter 50: Neuropathies Secondary to Systemic Diseases
	50.1 Introduction
	50.2 Epidemiology
	50.3 Clinical Features and Investigations
		50.3.1 Neuropathies Secondary to Diabetes
		50.3.2 Neuropathies Secondary to Metabolic Disorders
		50.3.3 Toxic Neuropathies
		50.3.4 Neuropathies Secondary to Infections
		50.3.5 Neuropathies Secondary to Nutritional Deficiency
		50.3.6 Drug-Induced Neuropathy (DIN)
	50.4 Management and Prognosis
	References
Part XII: Sensory
Chapter 51: Miller Fisher Syndrome (MFS)
	51.1 Introduction
	51.2 Clinical Features
		51.2.1 Classical MFS
		51.2.2 Incomplete Form of MFS
			51.2.2.1 Acute Ophthalmoparesis
			51.2.2.2 Ataxic GBS
			51.2.2.3 Acute Sensory Ataxic Neuropathy
		51.2.3 Bickerstaff Brainstem Encephalitis
		51.2.4 MFS and GBS Overlap
		51.2.5 Pediatric Versus Adult MFS
	51.3 Pathophysiology
	51.4 Investigations
		51.4.1 Anti-GQ1b Antibody
		51.4.2 Magnetic Resonance Imaging (MRI) and Electrophysiological Studies
		51.4.3 CSF Study
	51.5 Differential Diagnosis
	51.6 Management
	51.7 Prognosis
	References
Chapter 52: Distal Acquired Demyelinating Symmetric (DADS) Neuropathy
	52.1 Introduction
	52.2 Clinical Features
		52.2.1 DADS-M
		52.2.2 DADS-I
		52.2.3 Associations
	52.3 Investigations
		52.3.1 Antibodies
		52.3.2 CSF Protein
		52.3.3 Electrophysiological Study
	52.4 Differential Diagnosis
	52.5 Management
	52.6 Prognosis
	References
Chapter 53: Paraproteinemic Neuropathies
	53.1 Introduction
	53.2 Epidemiology
	53.3 Clinical Features
	53.4 Pathophysiology
	53.5 Investigations
	53.6 Differential Diagnosis
	53.7 Management
		53.7.1 Immunosuppressive Agents
		53.7.2 Pain and Dysautonomia
		53.7.3 Systemic Complications
	53.8 Prognosis
	53.9 Case Study
	References
Chapter 54: Sensory Ganglionopathies
	54.1 Introduction
	54.2 Epidemiology
	54.3 Clinical Features
	54.4 Pathophysiology
	54.5 Investigations
		54.5.1 Electrophysiological Studies
		54.5.2 Laboratory Parameters
		54.5.3 CSF Study
		54.5.4 Imaging Studies
		54.5.5 Tissue Biopsy
	54.6 Differential Diagnosis
	54.7 Management
	54.8 Prognosis
	References