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
- Case 9 Guillain–Barré Syndrome (GBS) and Miller–Fisher Syndrome (MFS)
- Case 10 Chronic Inflammatory Demyelinating Polyneuropathy (CIDP)
- Case 11 IgM Anti-MAG Polyneuropathy
- Case 12 Polyneuropathy, Organomegaly, Endocrine Manifestations, Monoclonal Protein, and Skin Changes (POEMS) Syndrome
- Case 13 Vasculitic Neuropathy
- Case 14 Small-Fibre Neuropathy (SFN)
- Case 15 Sensory Neuronopathy (SNN, Ganglionopathy)
- Case 16 Wartenberg Migrant Sensory Neuropathy
- Case 17 Multifocal Motor Neuropathy (MMN)
- Case 18 Peripheral Nerve Hyperexcitability Syndromes: Morvan Syndrome
- Case 19 Idiopathic Brachial Plexus Neuropathy, Neuralgic Amyotrophy (NA)
- Case 20 Diabetic Neuropathy
- Case 21 Alcoholic Polyneuropathy
- Case 22 Chronic Idiopathic Axonal Polyneuropathy (CIAP)
- Case 23 Critical Illness Polyneuropathy and Myopathy (CIPM)
- Case 24 Drug-Induced Polyneuropathies: Amiodarone Polyneuropathy
- Case 25 Lyme Radiculopathy
- Case 26 Leprosy
- Case 27 Charcot–Marie–Tooth Disease (CMT) Type 1A/Hereditary Neuropathy with Liability for Pressure Palsies (HNPP)
- Case 28 Charcot–Marie–Tooth Disease (CMT) Type 2 A and Type 2B
- Case 29 Hereditary Sensory and Autonomic Neuropathy (HSAN) Type 4
- Case 30 Hereditary Transthyretin (TTR) Amyloidosis
- Disorders of the Neuromuscular Junction
- Myopathies
- Video legends
- Index
- References
Case 30 - Hereditary Transthyretin (TTR) Amyloidosis
from Peripheral Neuropathies
Published online by Cambridge University Press: 29 November 2024
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
- Case 9 Guillain–Barré Syndrome (GBS) and Miller–Fisher Syndrome (MFS)
- Case 10 Chronic Inflammatory Demyelinating Polyneuropathy (CIDP)
- Case 11 IgM Anti-MAG Polyneuropathy
- Case 12 Polyneuropathy, Organomegaly, Endocrine Manifestations, Monoclonal Protein, and Skin Changes (POEMS) Syndrome
- Case 13 Vasculitic Neuropathy
- Case 14 Small-Fibre Neuropathy (SFN)
- Case 15 Sensory Neuronopathy (SNN, Ganglionopathy)
- Case 16 Wartenberg Migrant Sensory Neuropathy
- Case 17 Multifocal Motor Neuropathy (MMN)
- Case 18 Peripheral Nerve Hyperexcitability Syndromes: Morvan Syndrome
- Case 19 Idiopathic Brachial Plexus Neuropathy, Neuralgic Amyotrophy (NA)
- Case 20 Diabetic Neuropathy
- Case 21 Alcoholic Polyneuropathy
- Case 22 Chronic Idiopathic Axonal Polyneuropathy (CIAP)
- Case 23 Critical Illness Polyneuropathy and Myopathy (CIPM)
- Case 24 Drug-Induced Polyneuropathies: Amiodarone Polyneuropathy
- Case 25 Lyme Radiculopathy
- Case 26 Leprosy
- Case 27 Charcot–Marie–Tooth Disease (CMT) Type 1A/Hereditary Neuropathy with Liability for Pressure Palsies (HNPP)
- Case 28 Charcot–Marie–Tooth Disease (CMT) Type 2 A and Type 2B
- Case 29 Hereditary Sensory and Autonomic Neuropathy (HSAN) Type 4
- Case 30 Hereditary Transthyretin (TTR) Amyloidosis
- Disorders of the Neuromuscular Junction
- Myopathies
- Video legends
- Index
- References
Summary
A 70-year-old man noticed a feeling of walking on cotton wool for the past two years. Numbness had progressed from the toes to the knees, and for half a year there was tingling and numbness in the fingertips. These complaints were symmetric and there was no pain. Walking had become insecure. For one year he had no erections, whereas sexual function had previously been normal. There were no other signs of autonomic dysfunction. In the past two years there was also shortness of breath on exertion. A diagnosis of cardiomyopathy had been made recently.
The family history revealed vitreous opacities in the father and several siblings. A brother also had sensory disturbances in his feet and a thickened heart muscle. His four daughters did not have any complaints.
Keywords
- Type
- Chapter
- Information
- Neuromuscular DiseaseA Case-Based Approach, pp. 154 - 155Publisher: Cambridge University PressPrint publication year: 2024
References
Suggested Reading
Aimo, A, Castiglione, V, Rapezzi, C, et al. RNA-targeting and gene editing therapies for transthyretin amyloidosis. Nat Rev Cardiol 2022;19(10):655–667. doi: 10.1038/s41569-022-00683-z. Epub 2022 Mar 23. PMID: 35322226.CrossRefGoogle ScholarPubMed
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Gillmore, JD, Gane, E, Taubel, J, et al. CRISPR-Cas9 in vivo gene editing for transthyretin amyloidosis. N Engl J Med 2021;385(6):493–502. doi: 10.1056/NEJMoa2107454. Epub 2021 Jun 26. PMID: 34215024.CrossRefGoogle ScholarPubMed
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Magrinelli, F, Fabrizi, GM, Santoro, L, et al. Pharmacological treatment for familial amyloid polyneuropathy. Cochrane Database Syst Rev 2020;4(4):CD012395. doi: 10.1002/14651858.CD012395.pub2. PMID: 32311072; PMCID: PMC7170468.Google ScholarPubMed
Plante-Bordeneuve, V. Transthyretin familial amyloid polyneuropathy: an update. J Neurol 2018;265(4):976–983. doi: 10.1007/s00415-017-8708-4. Epub 2017 Dec 16. PMID: 29249054.CrossRefGoogle ScholarPubMed
Wisniowski, B, Wechalekar, A. Confirming the diagnosis of amyloidosis. Acta Haematol 2020;143(4):312–321. doi: 10.1159/000508022. Epub 2020 Jun 16. PMID: 32544917.CrossRefGoogle ScholarPubMed