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Kennedy Disease

Kennedy Disease 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, http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png JAMA Neurology American Medical Association

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References (5)

Publisher
American Medical Association
Copyright
Copyright 2003 American Medical Association. All Rights Reserved. Applicable FARS/DFARS Restrictions Apply to Government Use.
ISSN
2168-6149
eISSN
2168-6157
DOI
10.1001/archneur.60.6.893
pmid
12810497
Publisher site
See Article on Publisher Site

Abstract

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,

Journal

JAMA NeurologyAmerican Medical Association

Published: Jun 1, 2003

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