Benign focal amyotrophy (BFA) is a limited form of anterior horn cell disease with variable benign clinical appearance. Clinical symptoms of cold-sensitive BFA have been described but electrodiagnostic workup on these symptoms has not been done. A 28-year-old man suffering from cold-sensitive weakness and coordination disturbance of a hand underwent electrodiagnostic study while the subject was exposed to the cold. According to this study, the BFA with cold sensitivity may be classified as one type of BFA which can be confirmed by electrodiagnostic study.
Adult ; Hand ; Humans ; Motor Neuron Disease

Humans ; Motor Neuron Disease/diagnosis* ; Neoplasms

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.
Adult ; Humans ; Motor Neuron Disease ; Motor Neurons ; Muscle Weakness

Approximately 15% of patients with frontotemporal dementia (FTD) have co-occurring motor neuron disease (MND). FTD-MND cases have frontotemporal lobar degeneration (FTLD)-transactive response DNA-binding protein (TDP) pathology, which is divided into four subtypes (types A, B, C, and D) based on the morphological appearance, cellular location, and distribution of the abnormal TDP inclusions and dystrophic neurites. We report a patient with FTD-MND whose pathological diagnosis was FTLD-TDP type B. This is the first documented autopsy-confirmed case of FTD-MND in Korea.
Autopsy* ; Diagnosis ; Frontotemporal Dementia* ; Frontotemporal Lobar Degeneration ; Humans ; Korea ; Motor Neuron Disease* ; Motor Neurons* ; Neurites ; Pathology

Approximately 15% of patients with frontotemporal dementia (FTD) have co-occurring motor neuron disease (MND). FTD-MND cases have frontotemporal lobar degeneration (FTLD)-transactive response DNA-binding protein (TDP) pathology, which is divided into four subtypes (types A, B, C, and D) based on the morphological appearance, cellular location, and distribution of the abnormal TDP inclusions and dystrophic neurites. We report a patient with FTD-MND whose pathological diagnosis was FTLD-TDP type B. This is the first documented autopsy-confirmed case of FTD-MND in Korea.
Autopsy* ; Diagnosis ; Frontotemporal Dementia* ; Frontotemporal Lobar Degeneration ; Humans ; Korea ; Motor Neuron Disease* ; Motor Neurons* ; Neurites ; Pathology

BACKGROUND: No prospective analyses of clinical characteristics and prognostic factors on amyotrophic lateral sclerosis (ALS) have been performed in Korea. METHODS: The prognosis of 227 sporadic ALS patient with El-Escorial-compatible criteria were evaluated using the serial Korean Amyotrophic Lateral Sclerosis Functional Rating Scale-revised (K-ALSFRS-R), and the progression rate of K-ALSFRS-R (DeltaFS=48-ALSFRS-R at the time of diagnosis). Their clinical characteristics and survival times were also analyzed. The endpoint was defined as either time to death or the tracheostomy state. The effects of individual prognostic factors on disease progression were assessed with the Kaplan-Meier life-table method and multivariate Cox proportional regression analysis. The declining ALSFRS-R curve, epidemiological data, and neuropsychological tests were evaluated. RESULTS: Among 331 motor neuron disease (MND) patients, 227 were finally diagnosed as sporadic ALS. The mean age at onset in 227 sporadic ALS patients was 50.7 years (range 19-76 years). Analysis of sequential ALSFRS-R data revealed that a mean DeltaFS of 0.73/month and a high DeltaFS score were related with early death or a tracheostomy state. Neuropsychological testing revealed nonmotor symptoms, and especially cognitive impairment, had developed in half of our patients. CONCLUSIONS: Our data suggest that DeltaFS is valuable parameter for evaluating prognosis and clinical course of ALS patients, and clinical characteristics obtained from this study would be informative data for understanding epidemiology of ALS in Korea.
Amyotrophic Lateral Sclerosis ; Disease Progression ; Humans ; Korea ; Motor Neuron Disease ; Neuropsychological Tests ; Prognosis ; Tracheostomy

Motor neuron disease (MND) and frontotemporal dementia often appear together. We report on a 74-year-old woman who presented with a 18-month history of memory deterioration and MND. Her initial clinical diagnosis was probable Alzheimer's disease (AD) coexisting with MND. We conducted 11C-labeled Pittsburgh Compound-B positron-emission tomography (11C-PIB PET) to discriminate AD from other degenerative dementia, the results from which were negative for amyloid deposition.
Aged ; Alzheimer Disease ; Amyloid ; Dementia ; Female ; Frontotemporal Dementia ; Humans ; Memory ; Motor Neuron Disease ; Motor Neurons ; Positron-Emission Tomography

A relationship between preceding acute paralytic poliomyelitis and the later development of motor neuron disease has only occasionally been suggested since it was first postulated by Charcot in 1875. The authors recently experienced a 20-year-old male who was considered to have postpoliomyelitis muscular atrophy. We report this case in view of its rarity and necessity of differential diagnosis from other neuromuscular disorders. Clinical presentation included slowly progressive muscle wasting of left thigh for 4 years, mild weakness of left arm and both thigh, intermittent fasciculation, and previous history of acute paralytic poliomyelitis. Electromyographic findings showed fibrillation potentials, positive sharp waves, fasciculations, giant motor unit potentials and reduced interference patterns. Muscle biopsy revealed scattered small angulated fibers, individual myofiber degeneration and mild inflammatory cell infiltration.
Arm ; Biopsy ; Diagnosis, Differential ; Fasciculation ; Humans ; Male ; Motor Neuron Disease ; Poliomyelitis ; Postpoliomyelitis Syndrome* ; Thigh ; Young Adult

Hirayama disease is a rare neurological disorder characterized by an insidious progressive subacute unilateral or bilateral weakness of the hands and forearm muscles leading to a painless amyotrophy. The disease primarily affects young men in the second to third decades of life. It has always been described as a second motor neuron disease, thus sparing the pyramidal and sensitive pathways. It usually has a slow progression course of 3 to 5 years followed by stabilization. Since its initial description by Keyzo Hirayama in 1959, most cases have been reported in Asia, particularly Japan and India, although the disease reportedly has worldwide distribution.
Asia ; Forearm ; Hand ; Humans ; India ; Japan ; Male ; Motor Neuron Disease ; Muscles ; Nervous System Diseases ; Spinal Injuries*

Biofeedback therapy has emerged as a useful adjunct for patients with functional evacuation disorders over the past decade. The goals of biofeedback retraining may vary and could depend on the underlying dysfunction. In patients with obstructive defecation, the goals are to relax the anal sphincter, improve rectoanal coordination, and improve sensory perception. Methods of biofeedback therapy varied widely between centers. However, no difference was described when EMG-based biofeedback was compared to manometry-based biofeedback, or when visual or auditory feedback was given. In regards to biofeedback adjuncts, including sensory retraining with either an intrarectal balloon, a portable home-training unit or both can be practicable. There are inconsistencies in the literature regarding the patient selection criteria for biofeedback treatment. The patient group is not homogeneous. Different case selection, different regimens and different methods of biofeedback may explain the variability in success rate. Quality research that would assist in predicting outcome is still lacking. Although no specific denominator could possibly be assigned to correctly predict the overall outcome of therapy, biofeedback is not successful in all patients with outlet obstructed constipation. Results with success rates is ranging from 8.3 percent to 100 percent. The treatment of constipation by biofeedback has been viewed with some skepticism as the low success rate may simply be a placebo effect. The majority of scepticism to therapeutic outcome are derived from entry criteria for treatment. Lower success rates have been described when entry criteria were broadened. Prebiofeedback clinical findings which are presupposed to prognostic relevance are age, gender, duration of symptoms and presence of rectal pain, lower motor neuron disease, and psychiatric problems. I feel strongly that informations about the predictive factors are vital to all physicians either performing or recommending biofeedback to their patients. If biofeedback could be undertaken according to specific criteria, we, colorectal surgeon will save a fruitless endeavour, one would expect more improvements in more patients. Additional well-designed controlled trials are needed to establish the clinical and physiologic factors.
Anal Canal ; Biofeedback, Psychology* ; Constipation ; Defecation ; Humans ; Motor Neuron Disease ; Patient Selection ; Placebo Effect