View clinical trials related to Bulbo-Spinal Atrophy, X-Linked.
Filter by:This study proposes to identify acoustic and perceptual markers related to upper motor neuron (UMN) degeneration and lower motor neuron (LMN) degeneration in the dysarthria of patients with amyotrophic lateral sclerosis (ALS) which involves the degeneration of both systems. ALS patients will be gathered in clinical groups according to electromyogram (EMG) and clinical signs observed in the bulbar site. UMN signs are defined as jaw clonus, gag reflex and pseudobulbar features (lability). LMN signs are defined as lingual atrophy and fasciculations. The dysarthria will be compared to dysarthria of patients involving an exclusive UMN system degeneration (in primitive lateral sclerosis) and an exclusive LMN system degeneration (Kennedy's disease). Patients will be compared to the controls who permitted to establish the standards of the "MonPaGe" tool. MonPaGe is a computerized tool based on a multidimensional and quantified assessment of voice and speech, by a set of targeted acoustic and perceptual criteria.
Kennedy disease is an inherited neuromuscular disorder that is characterized by progressive muscle wasting and weakness. It typically starts with muscle spasms and tremors in the arms, followed by muscle weakness and atrophy of muscles in the arms and legs. The facial and bulbar muscles are also involved. However, the muscle involvement pattern has not been investigated systemically in Kennedy disease. The primary aim of the study is to investigate the muscle involvement in patients with Kennedy disease using MRI. Secondary aims are to examine disease severity and to test MRI as a potential outcome measure for future clinical trials in Kennedy disease. Approximately 40 patients with Kennedy disease and 20 gender and age matched healthy voluntary controls will be recruited. The study consists of one visit per subject lasting 4-5 hours.
We want investigate if high intensity training can increase daily functionality without causing muscle damage in patients Spinal and Bulbar Muscular Atrophy . We want to study if there is a difference in effect with supervised and unsupervised training. Furthermore we want to study if a supervised training program will motivate participants to continue training by the end of the program.
Background: - Spinal and bulbar muscular atrophy (SBMA) is an inherited disease. It causes weakness in muscles used for swallowing, breathing, and speaking. SBMA mainly affects men, but women can carry the gene for it. Researchers think there may be a link between SBMA and excess fat in the liver. Objective: - To look for fatty liver and liver injury in people with SBMA, people with motor neuron disease, and people who carry the gene for SBMA. Eligibility: - Adults 18 years and older who have SBMA, have motor neuron disease, or are carriers of SBMA. - Healthy adult volunteers. Design: - Participants will be screened with medical history, physical exam, and blood tests. - Participants will have 1 outpatient visit of 1-2 days. Women will have a urine pregnancy test. All participants will have: - Blood tests. - Liver ultrasound. A probe is placed on the abdomen at certain locations and angles and takes pictures. The painless procedure takes 20-30 minutes. - Liver magnetic resonance imaging (MRI) scan. The MRI scanner is a metal cylinder with a magnetic field. Participants will lie on a table that slides in and out of it. They will be in the scanner for about 30 minutes. They will get earplugs for loud noises. - Some participants with abnormal liver testing will have a biopsy (small piece) of the liver taken. The biopsy site will be located with ultrasound, then cleaned and numbed. The physician will quickly pass a needle in and out of the liver while the participants holds their breath. Afterward, participants will be monitored in bed for 6 hours. - Participants may return for follow-up and another 1-2 day outpatient visit yearly for up to 2 years.
The purpose of this study was to determine if BVS857 is safe, tolerable and increases thigh muscle thickness in patients with spinal bulbar and muscular atrophy (SBMA).
Background: -Spinal and bulbar muscular atrophy (SBMA) is an inherited disorder that affects men. People with SBMA often have weakness throughout the body, including the muscles they use for swallowing, breathing, and speaking. We do not know if exercise helps or harms people with SBMA. Objective: -To see if a 12-week program of either functional exercise or stretching exercises will improve strength, function, or quality of life in people with SBMA Eligibility: - Participants will be men 18 years of age or older who have genetic confirmation of SBMA. - They must be able to walk at least 50 feet with or without an assistive device such as a cane or a walker and stand for 10 minutes without using an assistive device. - They must have access to a computer with an Internet connection. Design: - At the first visit to NIH (2 days), participants will have a medical history taken and undergo a physical exam. They will also have blood tests and an EKG, and complete questionnaires about mood, health, and exercise. Tests of muscle strength, balance, and endurance will also be done. - Participants who qualify for the study will receive instruction about either strengthening or stretching exercises. They will do these exercises at home one to three times a week for 12 weeks. - They will wear a small activity monitor while they exercise and record their exercise in a diary. - At the end of 12 weeks, participants will return to the NIH for 2 days. They will undergo the same tests as they had on the first visit. - Participants will receive follow-up phone calls and e-mails during the study and for 4 weeks after the last visit....
This is a therapeutic trial study to demonstrate whether Goserelin, a LHRH agonist has benefit in SBMA Objective: 1. To study effects of Goserelin to clinical course of patients with spinal and bulbar muscular atrophy in Thailand 2. To demonstrate physiological and pathological changes in treated patients with Goserelin. 3. To assess tolerability and adverse effect of Goserelin therapy
This study will determine if the drug dutasteride can improve weakness, mobility, functioning, nerve function, and quality of life in patients with spinal and bulbar muscular atrophy (SBMA). Patients with this inherited disease have an abnormal androgen receptor protein. The male hormones testosterone and dihydrotestosterone (DHT) bind to this abnormal receptor, causing damage to nerve cells that innervate muscle and leading to weakness. Dutasteride decreases DHT production. Lowering DHT levels may decrease the harmful effects of DHT to the nerves and improve strength in people with SBMA. Males 18 years of age and older with SBMA who have neurological symptoms and can walk 100 feet (with or without assistive devices) may be eligible for this study. Candidates are screened with a blood test and a review of their medical records and genetic studies. Participants undergo the following procedures: - Blood and urine tests, history and physical examination, assessment of muscle strength - Quality-of-life questionnaire - Tests to assess functional abilities, such walking up steps, keeping the head up while lying down, and other measures - Nerve conduction study and motor unit number estimation to assess nerve damage. A probe placed on the skin delivers small electrical impulses and wires taped to the skin record the impulses. - Quantitative muscle testing to measure strength. The subject pushes and pulls levers attached to a gauge. Strength is recorded by a computer. - Medication. Participants are divided into two groups. One group is given the study drug, dutasteride; the other receives a placebo (sugar pill). All participants take their assigned medication once a day for 24 months. - Follow-up evaluations. Every 6 months for 2 years, participants return to NIH to repeat the tests described above to determine the effects of the dutasteride. Nerve and quantitative muscle testing is not done at the 6- and 18-month visits. - In addition to their follow-up appointments here at the NIH every 6 months, participants will also have blood tests and a physical examination performed after 3, 9, 15 and 21 months of treatment by the patient's local physician.