Access the full text.
Sign up today, get DeepDyve free for 14 days.
WR Kennedy, M Alter, JH Sung (1968)
Progressive proximal spinal and bulbar muscular atrophy of late onset: a sex-linked recessive trait., 18
Akhilesh Pandey, TU Agc, F. Crick, La Spada (1991)
Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophyNature, 352
A. Ferlini, M. Patrosso, D. Guidetti, L. Merlini, A. Uncini, M. Ragno, R. Plasmati, S. Fini, M. Repetto, P. Vezzoni, A. Forabosco (1995)
Androgen receptor gene (CAG)n repeat analysis in the differential diagnosis between Kennedy disease and other motoneuron disorders.American journal of medical genetics, 55 1
W. Kennedy, M. Alter, J. Sung (1998)
Progressive proximal spinal and bulbar muscular atrophy of late onsetNeurology, 50
J. Parboosingh, D. Figlewicz, A. Krizus, V. Meininger, N. Azad, D. Newman, G. Rouleau (1997)
Spinobulbar muscular atrophy can mimic ALS: The importance of genetic testing in male patients with atypical ALSNeurology, 49
IMAGES IN NEUROLOGY Avoiding Misdiagnosis 51-YEAR-OLD man cal reassessment revealed gyne- receptor gene. In healthy individu- with a history of comastia (Figure). He had no als, the CAG triplet repeats range prominent muscle testicular atrophy, and the develop- from 17 to 26, whereas patients with cramps and adult- ment of his primary and secondary Kennedy disease have more than 40 A onset diabetes melli- sexual characteristics was normal. CAG triplet repeats, with no over- tus was seen for slowly progressive He had a healthy 22-year-old son. Se- lap between the control and pa- muscle weakness and atrophy pre- rum androgen and estrogen levels tient groups. Kennedy disease is dominantly affecting the proximal were within reference limits. Cre- characterized by the loss of lower shoulder girdle muscles. He had no atine kinase levels were 5 times the motor neurons, but, unlike ALS, the bulbar symptoms, but tongue, fa- upper limit of normal. The diagno- upper motor neurons are not af- cial, and, particularly, perioral fas- sis of Kennedy disease was estab- fected. Patients with Kennedy dis- ciculations were prominent. He lished by polymerase chain reac- ease exhibit progressive weakness, had modest sensory disturbances, tion analysis that showed an muscle cramps,
JAMA Neurology – American Medical Association
Published: Jun 1, 2003
Read and print from thousands of top scholarly journals.
Already have an account? Log in
Bookmark this article. You can see your Bookmarks on your DeepDyve Library.
To save an article, log in first, or sign up for a DeepDyve account if you don’t already have one.
Copy and paste the desired citation format or use the link below to download a file formatted for EndNote
Access the full text.
Sign up today, get DeepDyve free for 14 days.
All DeepDyve websites use cookies to improve your online experience. They were placed on your computer when you launched this website. You can change your cookie settings through your browser.