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
- Case 1 Amyotrophic Lateral Sclerosis (ALS)
- Case 2 Primary Lateral Sclerosis (PLS)
- Case 3 Progressive Muscular Atrophy (PMA)
- Case 4 Segmental Spinal Muscular Atrophy
- Case 5 Spinal and Bulbar Muscular Atrophy (SBMA; Kennedy Disease)
- Case 6 Spinal Muscular Atrophy (SMA) Type 1
- Case 7 Spinal Muscular Atrophy (SMA) Type 3
- Case 8 Postpolio Syndrome (PPS); Poliomyelitis Anterior Acuta, West Nile Virus Poliomyelitis, Acute Flaccid Weakness in Children
- Peripheral Neuropathies
- Disorders of the Neuromuscular Junction
- Myopathies
- Video legends
- Index
- References
Case 5 - Spinal and Bulbar Muscular Atrophy (SBMA; Kennedy Disease)
from Disorders of the Anterior Horn Cell
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
- Case 1 Amyotrophic Lateral Sclerosis (ALS)
- Case 2 Primary Lateral Sclerosis (PLS)
- Case 3 Progressive Muscular Atrophy (PMA)
- Case 4 Segmental Spinal Muscular Atrophy
- Case 5 Spinal and Bulbar Muscular Atrophy (SBMA; Kennedy Disease)
- Case 6 Spinal Muscular Atrophy (SMA) Type 1
- Case 7 Spinal Muscular Atrophy (SMA) Type 3
- Case 8 Postpolio Syndrome (PPS); Poliomyelitis Anterior Acuta, West Nile Virus Poliomyelitis, Acute Flaccid Weakness in Children
- Peripheral Neuropathies
- Disorders of the Neuromuscular Junction
- Myopathies
- Video legends
- Index
- References
Summary
A 58-year-old man had to give up his weekly swimming club as gradually he could no longer keep up with his peers and had difficulty climbing out of the water. He had always been a keen hiker, but for the past four years had to shorten the distance. His body weight increased. Six months prior to referral he sprained his ankle after stumbling over a threshold. In the dark, he had difficulty finding his way to avoid falling. He tended to choke when drinking a cup of tea. His mother’s deceased brother had become wheelchair dependent after retiring.
Keywords
- Type
- Chapter
- Information
- Neuromuscular DiseaseA Case-Based Approach, pp. 84Publisher: Cambridge University PressPrint publication year: 2024
References
Suggested Reading
Breza, M, Koutsis, G. Kennedy’s disease (spinal and bulbar muscular atrophy): a clinically oriented review of a rare disease. J Neurol 2019;266(3):565–573. doi: 10.1007/s00415-018-8968-7. Epub 2018 Jul 13. PMID: 30006721.CrossRefGoogle ScholarPubMed
Hashizume, A, Fischbeck, KH, Pennuto, M, Fratta, P, Katsuno, M. Disease mechanism, biomarker and therapeutics for spinal and bulbar muscular atrophy (SBMA). J Neurol Neurosurg Psychiatry 2020;91(10):1085–1091. doi: 10.1136/jnnp-2020-322949. PMID: 32934110.CrossRefGoogle ScholarPubMed
Pradat, PF, Bernard, E, Corcia, P, et al.; French Kennedy’s Disease Writing Group. The French national protocol for Kennedy’s disease (SBMA): consensus diagnostic and management recommendations. Orphanet J Rare Dis 2020;15(1):90. doi: 10.1186/s13023-020-01366-z. PMID: 32276665; PMCID: PMC7149864.CrossRefGoogle ScholarPubMed