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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.
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ABSTRACT The X-linked spinal and bulbar muscular atrophy (Kennedy's disease) is a rare X-linked, recessive, lower motor neuron disease, characterized by weakness, atrophy, and fasciculations of the appendicular and bulbar muscle. The disease is caused by an expansion of the CAG repetition in the androgen receptor gene. Patients with Kennedy's disease have more than 39 CAG repetitions. We report a case of 57-year-old man, resident of Monte Dourado (PA, Brazil) who complained of brachiocrural paresis evolving for 3 years along with fasciculations and tremors of extremities. In addition, he also developed dysarthria, dysphagia, and sexual dysfunction. The patient clinical picture included gait impairment, global hyporeflexia, proximal muscle atrophy of upper limbs, deviation of the uvula to right during phonation and tongue atrophy with fasciculations. The patient reported that about 30 years ago he had undergone gynecomastia surgery. His electroneuromyography suggested spinal muscular atrophy, and nuclear magnetic resonance imaging showed tapering of the cervical and thoracic spinal cord. Patient's creatine kinase level was elevated. In view of the findings, an exam was requested to investigate Kennedy's disease. The exam identified 46 CAG repetitions in the androgen receptor gene, which confirmed the diagnostic suspicion. This was the first case of Kennedy's disease diagnosed and described in the Brazilian Amazon. To our knowledge only other four papers were published on this disease in Brazilian patients. A brief review is also provided on etiopathogenic, clinical and diagnostic aspects.
RESUMO A atrofia muscular bulboespinhal ligada ao cromossomo X (doença de Kennedy) é uma rara doença de neurônio motor inferior, recessiva, ligada ao X, e caracterizada por fraqueza, atrofia e fasciculações da musculatura apendicular e bulbar. É causada por uma expansão da repetição CAG no gene do receptor de androgênio. Pacientes com doença de Kennedy apresentam mais de 39 repetições CAG. O paciente deste relato era do sexo masculino, 57 anos, morador de Monte Dourado (PA, Brasil), com queixa de paresia braquiocrural há 3 anos, acompanhada de fasciculações e tremores de extremidades. Em seguida, ele desenvolveu disartria, disfagia e disfunção sexual. Também apresentava comprometimento da marcha, hiporreflexia global, atrofia muscular proximal dos membros superiores, desvio da úvula para direita à fonação e atrofia de língua com fasciculações. Foi realizada cirurgia para tratamento de ginecomastia há 30 anos. A eletroneuromiografia sugeriu quadro de atrofia muscular espinhal. Imagens de ressonância magnética demonstraram afilamento da medula espinhal cervical e torácica. A creatina quinase estava elevada. Diante dos achados, solicitou-se investigação para doença de Kennedy, e foram identificadas 46 repetições CAG no gene do receptor de androgênio, o que confirmou a suspeita diagnóstica. Este foi o primeiro caso de doença de Kennedy diagnosticado e descrito na Amazônia brasileira. Existem, além deste relato, apenas outros quatro trabalhos publicados sobre a doença em pacientes do Brasil. Também realizamos breve revisão de aspectos etiopatogênicos, clínicos e diagnósticos.
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Humanos , Masculino , Persona de Mediana Edad , Atrofia Bulboespinal Ligada al X/diagnóstico , Brasil/epidemiología , Familia , Bosques , Atrofia Bulboespinal Ligada al X/genética , Atrofia Bulboespinal Ligada al X/epidemiología , Enfermedades AsintomáticasRESUMEN
Objective To analyze the clinical feature,serum examination,EMG of Kennedy'Disease to reduce misdiagnosis of Kennedy's Disease.Methods Five cases of Kennedy's disease were confirmed by genetic test.The clinical data was analyzed including clinical features,laboratory findings,EMG characteristics and determination of AR gene exon 1 CAG repeat sequence.Results These cases were male without an obvious positive family history.The average age of onset was 39.8 ±7.2 years old and the average duration from onset to diagnosis was 9 ±5.2 years.Onset symptoms included Lower limbs weakness in 3 cases,facial fasciculationin 1 cases and gynecomastia in 1 case.The most prominent clinical manifestations were tongue muscle atrophy,tongue muscle fibrillation and proximal limb muscle weakness.In addition,these 5 cases did not have clinical manifestation of sensation loss nor EMG evidence of abnormal sensation.Conclusion Kennedy's disease is a neurodegenerative disease characterized by lower motor neuron damage.The clinical features of these 5 cases are approximately the same as those reported in previous literatures.Although the patients have been reported to have abnormal sensation,the present study indicates that some patients with Kennedy's disease may not present with abnormal sensation and that the diagnosis of Kennedy's disease depends on the genetic test.
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Objective To analyze the clinical feature,serum examination,EMG of Kennedy'Disease to reduce misdiagnosis of Kennedy's Disease.Methods Five cases of Kennedy's disease were confirmed by genetic test.The clinical data was analyzed including clinical features,laboratory findings,EMG characteristics and determination of AR gene exon 1 CAG repeat sequence.Results These cases were male without an obvious positive family history.The average age of onset was 39.8 ±7.2 years old and the average duration from onset to diagnosis was 9 ±5.2 years.Onset symptoms included Lower limbs weakness in 3 cases,facial fasciculationin 1 cases and gynecomastia in 1 case.The most prominent clinical manifestations were tongue muscle atrophy,tongue muscle fibrillation and proximal limb muscle weakness.In addition,these 5 cases did not have clinical manifestation of sensation loss nor EMG evidence of abnormal sensation.Conclusion Kennedy's disease is a neurodegenerative disease characterized by lower motor neuron damage.The clinical features of these 5 cases are approximately the same as those reported in previous literatures.Although the patients have been reported to have abnormal sensation,the present study indicates that some patients with Kennedy's disease may not present with abnormal sensation and that the diagnosis of Kennedy's disease depends on the genetic test.
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Objective To develop a scale to assess Kennedy's disease (KD) based on patients' clinical characteristics and to validate its application in patients.Methods We developed KD1234 Scale following the model of Amyotrophic Lateral Sclerosis-Functional Rating Scale.Using this new scale,we assessed patients with genetic diagnosis of KD and evaluated the reliability and validity of the new scale.Reliability was analyzed using Cronbach' s α coefficient and split-half reliability.Validity was analyzed by content validity and structure validity.Results The Cronbach' s α coefficient of the total scale was 0.789 and split-half reliability coefficient was 0.868.The α of breathing with total score was 0.3-0.4,α of written,language and swallowing with the total score was 0.4-0.5,α of other items with the total score was ＞ 0.5 (P ＜ 0.01 in each of above α).Four common factors extracted by exploratory factor analysis had well correspondence between the scale construction and the theoretical construction.Factor loading was ranged from 0.541 to 0.864 for each item.The duration of the disease showed some correlation with the score of KD1234 Scale.Conclusions The KD1234 Scale demonstrates high reliability and validity.The duration of the disease indicates negative correlation with KD1234 Scale scores.The KD1234 Scale can be used in clinical research to evaluate the condition of KD patients quantitatively.
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Objective To investigate the clinical characteristics of Kennedy disease with secondary mitochondrial dysfunction and glutaric aciduria typeⅡ.Methods The clinical data of 1 case Kennedy disease with secondary mitochondrial dysfunction and glutaric aciduria typeⅡwas retrospectively analyzed.Results The patient presented muscle weakness in proximal limbs, fasciculation, bulbar palsy, amyotrophy, postural tremor, sensory disturbance, gynaecomastia, impotency.The level of serum creatine kinase and urinary glutaric acid were elevated. Electromyogram and nerve and muscle biopsy supported mixed damage in peripheral nerves, as well as neurogenic and secondary myogenic pathologic changes in muscles.Gene sequencing indicated trinucleotide CAG repeated amplification for 47 times in chromosome X.Diabetes was diagnosed at 7 years after onset.Conclusions The pathogenesis of Kennedy disease is very complex, which may involve myogenic factor.The treatment to the secondary mitochondrial and lipid metabolic disturbance in muscle can improve the muscle weakness to a certain extent.
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Objective To analyze the clinical features of 35 cases of Kennedy's disease and the correlation be?tween clinical features and CAG repeat size to strengthen the understanding of KD and to avoid misdiagnosis and delayed diagnosis.Methods Clinical data, including clinical signs and symptoms ,serum lipid, serum sex hormone level, electro?myography, the number of CAGs and (amyotrophic lateral sclerosis muscular atrophy,ALS) rating scale were collected from 35 patients genetically diagnosed of Kennedy disease and proceed system analysis. Results Patients with KD were adult onset with the average age of (40.77 ± 8.57) years and the average confirmed course were (8.32 ± 4.17) years. Forty-two point nine percent of the patients had family history. Clinical features included medulla oblongata and spinal muscular atrophy and weakness, limbs tremor, perioral muscles twitch and endocrine function and metabolic disorders in some cases. Creatine kinase, triglyceride, low density lipoprotein, follicle estrogen and prolactin were significantly in?creased compared to healthy adults (P:0.000,0.018,0.000,0.000,0.003). The number of CAG repeat was negatively correlated with the onset age (r=-0.549, P=0.001) but not associated with the illness severity (ALS rating scale) (r=0.001, P=0.998). ALS score was negatively correlated with course of disease(r=-0.540, P=0.001).Conclusions Chinese KD pa? tients share similar clinical phenotypes with those of other races but exhibit slightly different clinical characteristics. The length of the CAG repeat influences age at onset but not the severity of disease. Severity of disease is related to the course of disease.
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Objective To explore the clinical features of Kennedy disease .Methods The clinical data of 3 patients with Kennedy disease was respectively analyzed .Results All three patients were middle-aged male and had a chronic onset .Patients were mainly presented with the muscle weakness and fasciculation in the proximal limb and bulbar , and the symptoms grow progressively .Two patients were hyperplasia of mammary glands , 3 patients had high levels of serum creatine kinase , and 2 patients'serum testosterone level was increased .EMG detected a widespread neuronal damage in all three cases , and the sensory conductions were abnormal in 2 patients.Repeat numbers of CAG in exon 1 of androgen receptor gene of 2 patients were tested, and they were 57, 47 respectively.Conclusions The clinical features of Kennedy disease are muscle weakness and androgen insensitivity syndrome in male patient and EMG presented with motor neuron damaged .Repeat number of CAG in exon 1 of androgen receptor gene is increased.
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A 69-year-old man was consulted to our Home Health Care department for home parenteral enteral nutrition. He was diagnosed with Kennedy disease. He had swallowing difficulty and bowel ischemia. We provided nutritional support in a variety of ways in order to suit his condition. The role of the home care nurse involves training methods depending on changes in the nutritional support to patient and care giver. However, in the case of Kennedy disease, increasing the target patient's nutritional requirements as calculated was difficult.
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Anciano , Humanos , Atrofia Bulboespinal Ligada al X , Cuidadores , Deglución , Atención a la Salud , Nutrición Enteral , Servicios de Atención de Salud a Domicilio , Isquemia , Necesidades Nutricionales , Apoyo Nutricional , Nutrición ParenteralRESUMEN
OBJECTIVE: To study tremor in patients with X-linked recessive spinobulbar muscular atrophy or Kennedy's disease. METHODS: Ten patients (from 7 families) with a genetic diagnosis of Kennedy's disease were screened for the presence of tremor using a standardized clinical protocol and followed up at a neurology outpatient clinic. All index patients were genotyped and showed an expanded allele in the androgen receptor gene. RESULTS: Mean patient age was 37.6 years and mean number of CAG repeats 47 (44-53). Tremor was present in 8 (80 percent) patients and was predominantly postural hand tremor. Alcohol responsiveness was detected in 7 (88 percent) patients with tremor, who all responded well to treatment with a β-blocker (propranolol). CONCLUSION: Tremor is a common feature in patients with Kennedy's disease and has characteristics similar to those of essential tremor.
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Adulto , Humanos , Masculino , Persona de Mediana Edad , Adulto Joven , Atrofia Bulboespinal Ligada al X/fisiopatología , Temblor/fisiopatología , Edad de Inicio , Antagonistas Adrenérgicos beta/administración & dosificación , Debilidad Muscular/fisiopatología , Propranolol/administración & dosificación , Temblor/tratamiento farmacológicoRESUMEN
Objective To investigate the correlation of CAGs repeat size and age of onset in patients with Kennedy's Disease (KD).Methods We detected the number of CAG repeats in the androgen receptor genes in 30 patients with KD.The correlation of CAGs repeat size with age of onset was analyzed.At the same time,the Appel scale that could represent the degree of motor functional impairment was scored in every patient.The correlation of Appel scale with CAGs repeat size and the course of disease were analyzed.Results Significant correlation was found between the number of CAGs with age of onset (r= -0.671,P <0.01 ).There was also correlation between the Appel score and the course of disease (r=0.855,P<0.01 ),but no correlation between the Appel score and the number of CAGs (r =0.100,P =0.601 ).Conclusions It is found that in Kennedy' disease,as well as in other CAG repeat diseases,the length of polyglutamine tract determines the age of onset ,but has no correlation with the severity of the disease.
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Kennedy's disease is a rare lower motor neuron disease affecting the limbs and bulbar musculature. Regional anesthesia is generally the recommended anesthetic technique in patients with Kennedy's disease because of bulbar involvement and airway clearing disturbance. We administered general anesthesia in a patient with Kennedy's disease who was undergoing a laparoscopic cholecystectomy. We closely monitored the degree of neuromuscular blockade throughout the operation and injected atracurium on demand. There was no exacerbation of neurologic signs or symptoms postoperatively. Therefore, we report the successful administration of general anesthesia for laparoscopic cholecystectomy in a patient with Kennedy's disease.
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Humanos , Anestesia , Anestesia de Conducción , Anestesia General , Atracurio , Colecistectomía Laparoscópica , Extremidades , Enfermedad de la Neurona Motora , Manifestaciones Neurológicas , Bloqueo NeuromuscularRESUMEN
Kennedy's disease is an adult onset form of motor neuron disease characterized by progressive proximal and bulbar muscle weakness. The authors report the anaesthetic management of a 43-year-old man with Kennedy's disease who underwent elective orthopaedic surgery under spinal anaesthesia. The anaesthetic implications of this X-linked lower motor neuron disorder are discussed, and guidelines for safe anaesthetic management are suggested.
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Adulto , Humanos , Enfermedad de la Neurona Motora , Neuronas Motoras , Debilidad MuscularRESUMEN
Kennedys disease (KD) is a rare, slowly progressive neurodegenerative disorder of motor neurons in the spinal cord and brain stem. Most of the cases of KD in clinical practice are misdiagnosed. The knowledge of the initial presentation, the range of age within which the disease would manifest and the clinical course of the disease would be very helpful to better manage and anticipate the outcome of such cases. This report highlights the typical earliest presentation of KD and the clearcut clinical picture of KD that differentiates it from other motor neuron diseases of grave scenario and prognosis We report clinical details of 4 male patients with KD seen in our center. Diagnosis of these four patients were based on their clinical picture the time they were first seen. Common features in their history and presentation were the onset of prolonged and intermittent muscle cramps followed by weakness and atrophy of the muscles involved. All of them developed gynecomastia. Three of them have concomitant diabetes, and one has thyroid problem. All of them were initially diagnosed as Amyotrophic lateral Sclerosis.
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Humanos , Masculino , Persona de Mediana Edad , Esclerosis Amiotrófica Lateral , Atrofia Bulboespinal Ligada al X , Calambre Muscular , Ginecomastia , Enfermedad de la Neurona Motora , Degeneración Nerviosa , Tronco Encefálico , Diabetes MellitusRESUMEN
Kennedy disease,a motor neuron disease,is an adult onset form of spinal and bulbar amyotrophy characterized by the damage of low motor neuron and uncompleted androgen insensitivity syndrome.So far,there is no effective treatment.This article is intended to provide neurologist with information about Kennedy disease in epidemiology,etiology,pathogenesis,clinical feature,treatment and so on.