ABSTRACT
Objective To report a case of Kennedy disease confirmed by gene diagnosis and to retrospectively reviewed the clinical features of genetically-confirmed patients with Kennedy disease in China. Methods The clinical data of this patient from our hospital were collected. Two electronic databases (Wanfang Data and CNKI) were searched using keywords “Kennedy disease” and “X-linked recessive hereditary amyotrophy of spinal cord and medulla oblongata” from Jan. 2007 to Dec. 2017. And a total of 63 articles (170 cases) were finally identified, including one case reported by us. The clinical data and biochemical indicators of Kennedy disease in China were summarized and analyzed. Results All the 170 patients were male. The average age of onset was (39.12±10.21) years old in 164 patients with described age of onset, mainly ranging 30-50 years old, and the average age of treatment was (48.04±8.94) years. We also noticed that the age of onset was negatively correlated with the number of CAG repeats in 161 patients (r＝－0.272, P＝0.001). In 170 Kennedy disease patients, the most common symptoms were proximal weakness of the lower extremities (93 cases, 54.71%), followed by weakness of limbs (38 cases, 22.35%). With the progression of the disease, 93 (54.71%) patients had breast development and/or decreased sexual function; and 143 (84.12%) patients had atrophy and fibrillation of tongue muscles, but no obvious drinking water choking was found in the literature. The main signs of lower motor neuron were mild muscle atrophy, fascicular fibrillation, mild muscle degeneration, especially the proximal limb, with diminished or disappeared tendon reflex. We also noticed that 91.18% (155/170) of the patients had increased creatine kinase. Some patients had diabetes, elevated blood lipids, thyroid dysfunction and/or mild liver dysfunction. Conclusion The diagnosis of suspected Kennedy disease patients can be confirmed by genetic tests with the deep understanding of the disease by physicians and the popularization of genetic examination, although there have been no effective methods for treatment of Kennedy disease.
ABSTRACT
Objective: To report a genetically proven Kennedy disease pedigree in China and to discuss its clinical presentations, pathological features and molecular mechanism, so as to provide more information on Kennedy disease. Methods: We conducted a complete survey of the family, including 3 generations and 41 individuals. The proband was given a thorough clinical examination including CK level, EMG, testosterone level, nerve biopsy, and muscle biopsy. Genomic DNA was extracted from the peripheral blood; the repeats of CAG in the exon 1 of androgen receptor was amplified by PCR and sequenced directly. Results: The sequencing result showed that the proband(III-11) had a CAG repeat of 54); one patient (IV-2) had a CAG repeat of 55; one had a CAG repeat of 54; one presymptomatic individual had a CAG repeat of 54(IV-8). There were 3 female carriers (II-6, III-3, and III-15). The CPK and testosterone levels were increased in the proband. EMG revealed neurogenic injury. Nerve biopsy revealed demylination change in the peripheral nerve and muscle biopsy revealed muscle atrophy originated from nerve. Conclusion: Kennedy has no characteristic clinical symptoms, and gene diagnosis is the gold standard. The progression of SBMA is usually much slower compared with those of bulbar atrophy and atrophic lateral sclerosis(ALS).
ABSTRACT
@#ObjectiveTo explore the clinical features and diagnosis of one Kennedy's disease.MethodsOne patient was clinically diagnosed as Kennedy's disease on the basis of the clinical features including slowing progression of disease, symptoms, nervous system signs, electromyography and nerve conduction velocity results and family history. His CAG number from the repetitive CAG sequence in the first exon of androgen receptor gene was determined using PCR.ResultsThe progression of Kennedy's disease is usually much slower. The CPK and testosterone levels increased in patient. EMG revealed neurogenic injury. The numbers of CAG region of the first exon of androgen receptor gene were 51 in the patient.ConclusionDespite its relatively typical manifestations, the definite diagnosis of Kennedy's disease should be made by detecting the number of CAG from the repetitive CAG region in the first exon of androgen receptor gene.