Kennedy's disease: an under-recognized motor neuron disorder
- PMID: 32839928
- DOI: 10.1007/s13760-020-01472-6
Kennedy's disease: an under-recognized motor neuron disorder
Abstract
Kennedy's disease or spinal bulbar muscular atrophy is a rare, inherited and slowly progressive multisystem disease mostly manifesting with a motor neuron disease phenotype leading to disability. The slow progression, partial androgen insensitivity, electrophysiological evidence of sensory neuronopathy, and relatively spared central nervous system pathways help differentiate it from amyotrophic lateral sclerosis. To date, there is no treatment or cure with clinical care mainly focused on accurate diagnosis, symptom management, patient education, and genetic counselling.
Keywords: Kennedy’s disease; Motor neuron disease; Spinal bulbar muscular atrophy.
References
-
- Kennedy WR, Alter M, Sung JH (1968) Progressive proximal spinal and bulbar muscular atrophy of late onset. A sex-linked recessive trait. Neurology 18(7):671–680
-
- Parboosingh JS, Figlewicz DA, Krizus A, Meininger V, Azad NA, Newman DS et al (1997) Spinobulbar muscular atrophy can mimic ALS: the importance of genetic testing in male patients with atypical ALS. Neurology 49(2):568–572
-
- Jokela ME, Udd B (2016) Diagnostic clinical, electrodiagnostic and muscle pathology features of spinal and bulbar muscular atrophy. J Mol Neurosci 58(3):330–334
-
- La Spada AR, Wilson EM, Lubahn DB, Harding AE, Fischbeck KH (1991) Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 352(6330):77–79
-
- Poletti A (2004) The polyglutamine tract of androgen receptor: from functions to dysfunctions in motor neurons. Front Neuroendocrinol 25(1):1–26
Publication types
MeSH terms
LinkOut - more resources
Full Text Sources