Patients with Kennedy syndrome, which progresses more slowly than amyotrophic lateral sclerosis show a mild degree of motor fluctuation but rarely show significant decremental responses to repetitive nerve stimulations. Even in a patient with decremental responses to repetitive nerve stimulations, there is usually no significant improvements in motor symptoms to anticholinesterases. We experienced a patient with Kennedy syndrome, who showed significant decremental responses to repetitive nerve stimulations and a marked degree of motor fluctuation. His motor fluctuation responded dramatically to anticholinesterase. (J Korean Neurol Assoc 19(5):544~546, 2001)
Amyotrophic Lateral Sclerosis ; Bulbo-Spinal Atrophy, X-Linked* ; Cholinesterase Inhibitors ; Humans ; Myasthenia Gravis*

OBJECTIVETo study the clinical presentations of Kennedy disease (KD) and compare the neurophysiological features between KD and amyotrophic lateral sclerosis(ALS).

METHODSNine patients with KD, 13 patients with ALS and 26 normal control subjects were recruited. The clinical presentations of KD were analyzed, and the results of nerve conduction studies and electromyography were compared among the 3 groups.

RESULTSThe rates of tongue atrophy and facial fasciculation were 100% and 88.9%, respectively, in the early course and mid-course of KD, sensory damages might be perceived. 2)The sural nerve sensory nerve action potential (SNAP) was not elicited in 56.3% of the patients with KD, and sural nerve SNAP amplitudes were significantly lower in KD (7.9. ± 3.4 µV) than in ALS patients (20.0 ± 5.2 µV) and normal control subjects (26.1 ± 16.8 µV) (P<0.05).

CONCLUSIONB The onset of clinical presentations mimicking motor neuron disease, appearance of tongue atrophy and facial fasciculation in the early and mid-course, and presence of sensory impairment with a decreased sural nerve SNAP amplitude may suggest the diagnosis of KD and should prompt a genetic test for KD.

Amyotrophic Lateral Sclerosis ; physiopathology ; Bulbo-Spinal Atrophy, X-Linked ; physiopathology ; Electromyography ; Evoked Potentials ; Humans

Acupuncture Therapy ; Adult ; Bulbo-Spinal Atrophy, X-Linked ; therapy ; Humans ; Male

BACKGROUND AND PURPOSE: X-linked bulbospinal muscular atrophy (X-BSMA) is characterized by bulbar and spinal muscular weakness and fasciculations. Although X-BSMA is a motor neuronopathy, there are several reports of myasthenic symptoms or decremental responses to repetitive nerve stimulation (RNS). We report the results of applying the RNS test to 15 patients among 41 with genetically confirmed X-BSMA; these 15 patients complained of fatigue, ease of becoming tired, or early muscular exhaustion. METHODS: The 3-Hz RNS test was performed on the trapezius, nasalis, orbicularis oculi, flexor carpi ulnaris, and abductor digiti quinti muscles. A decrement greater than 10% was considered abnormal. Additionally, a pharmacologic response to neostigmine was identified in three patients. RESULTS: A significant decrement was observed in 67% of patients, and was most common in the trapezius muscle (nine cases). The decrement of the trapezius muscle response ranged from 15.9% to 36.9%. The decrement was inversely correlated with the amplitude of compound muscle action potentials at rest. Neostigmine injection markedly improved the decrement in three patients, who showed noticeable decremental responses to 3-Hz RNS. CONCLUSIONS: This study shows that myasthenic symptoms and abnormal decremental responses to low-rate RNS are common in X-BSMA.
Action Potentials ; Bulbo-Spinal Atrophy, X-Linked ; Fasciculation ; Fatigue ; Humans ; Motor Neuron Disease ; Muscle Weakness ; Muscles ; Muscular Atrophy ; Myasthenia Gravis ; Neostigmine ; Neuromuscular Junction

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.
Aged ; Bulbo-Spinal Atrophy, X-Linked* ; Caregivers ; Deglutition ; Delivery of Health Care ; Enteral Nutrition* ; Home Care Services ; Humans ; Ischemia ; Nutritional Requirements ; Nutritional Support ; Parenteral Nutrition

We report a 55-year-old man with chronic weakness of both legs with recently experienced nasal voice. Despite the absence of sensory symptoms, electrophysiologic studies revealed the presence of sensorimotor polyneuropathy. A sural-nerve biopsy showed remarkable reduction of large myelinated fibers with prominent remyelination. Intravenous immunoglobulin was administered due to suspected chronic demyelinating neuropathy, but had no effect. Abnormal trinucleotide-repeat expansion of the androgen receptor gene was subsequently detected in both the patient and his family. These observation indicate that prominent remyelinating features are not necessarily indicative of demyelinating neuropathy.
Biopsy ; Bulbo-Spinal Atrophy, X-Linked ; Humans ; Immunoglobulins ; Leg ; Middle Aged ; Myelin Sheath ; Organic Chemicals ; Polyneuropathies ; Receptors, Androgen ; Sural Nerve ; Voice

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.

Human ; Male ; Middle Aged ; Amyotrophic Lateral Sclerosis ; Bulbo-spinal Atrophy, X-linked ; Muscle Cramp ; Gynecomastia ; Motor Neuron Disease ; Nerve Degeneration ; Brain Stem ; Diabetes Mellitus

OBJECTIVETo review the clinical and genetic features of a pedigree of Kennedy disease in China.

METHODSThe clinical data of patients from a Kennedy disease family were collected. The numbers of trinucleotide CAG repeats in exon 1 of the androgen receptor gene were determined by DNA sequencing and repeat fragment analysis.

RESULTSIn the pedigree, 4 patients were identified as Kennedy disease. Clinical manifested with adult-onset, progressive proximal limb muscle weakness and atrophy, gynecomastia, oligospermia were also presented. The number of trinucleotide CAG repeats in exon 1 of the androgen receptor gene was 51 in the proband. The electrophysiological study showed sensory and motor involvement and their serum triglycerides values were elevated significantly.

CONCLUSIONAndrogen receptors gene testing is the most reliable diagnosing method, the patients suspected as Kennedy disease should have a gene testing of androgen receptors.

Base Sequence ; Bulbo-Spinal Atrophy, X-Linked ; diagnosis ; genetics ; Humans ; Male ; Middle Aged ; Molecular Sequence Data ; Pedigree ; Receptors, Androgen ; genetics ; Trinucleotide Repeats ; genetics

OBJECTIVETo screen for potential mutations of androgen receptor (AR) gene in a patient clinically diagnosed as Kennedy disease.

METHODSPolyglutamine expansion (PQE) induced by a duplication of CAG trinucleotide tandem-repeat in exon 1 of the AR gene was detected with PCR and T-clone sequencing.

RESULTSCompared with the number of CAG repeat of 22 in the normal allele, the number of CAG repeats has increased to 45 in the mutant allele carried by the patient. This has fit with the diagnostic criteria for Kennedy disease.

CONCLUSIONA mutation of PQE has been detected in the patient with Kennedy disease. Detection of PQE in AR gene can be used as reliable method to identify the Kennedy disease.

Base Sequence ; Bulbo-Spinal Atrophy, X-Linked ; blood ; diagnosis ; genetics ; Creatine Kinase ; blood ; Humans ; Male ; Middle Aged ; Molecular Sequence Data ; Receptors, Androgen ; genetics ; Trinucleotide Repeat Expansion

We had 58-year-old-man with chronic lower back pain, progressive whole extremities and facial muscle weakness, dysarthria and recurrent aspiration during swallowing, without any sensory disturbance. His two brothers had similar symptoms from their 6th decade. He had muscle atrophy on tongue, both hand lower leg muscles with some fasciculations. All tendon reflexes were absent without pathologic pyramidal reflex. Nerve conduction studies revealed low median, ulnar, and sural sensory nerve action potential amplitude. On EMG study, there were chronic denervation potentials on most of muscles of extremities. On DNA analysis, there were abnormal expansions of CAG repeats in the androgen receptor gene. We confirmed a X-linked recessive bulbospinal muscular atrophy (Kennedy's syndrome).
Action Potentials ; Bulbo-Spinal Atrophy, X-Linked ; Deglutition ; Denervation ; DNA ; DNA Mutational Analysis ; Dysarthria ; Extremities ; Facial Muscles ; Fasciculation ; Hand ; Humans ; Leg ; Low Back Pain ; Muscles ; Muscular Atrophy* ; Neural Conduction ; Receptors, Androgen ; Reflex ; Reflex, Stretch ; Siblings ; Tongue