Rare Gastroenterology News
Advertisement
Disease Profile
Progressive bulbar palsy
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
#N/A
Age of onset
#N/A
ICD-10
#N/A
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Progressive bulbar atrophy
Categories
Nervous System Diseases
Summary
Progressive bulbar palsy involves the brain stem. The brain stem is the part of the brain needed for swallowing, speaking, chewing, and other functions. Signs and symptoms of progressive bulbar palsy include difficulty swallowing, weak jaw and facial muscles, progressive loss of speech, and weakening of the tongue. Additional symptoms include less prominent weakness in the arms and legs, and outbursts of laughing or crying (called emotional lability).[1]
Progressive bulbar palsy is considered a variant form of amyotrophic lateral sclerosis (ALS).[1][2] Many people with progressive bulbar palsy later develop ALS. While there is no cure for progressive bulbar palsy or for ALS, doctors can treat symptoms.
Diagnosis
Because of the lack of definitive tests, you may find it helpful to consult with a doctor who is experienced in diagnosing ALS. The ALS Association lists experts and specialty centers through their Web site at: https://www.alsa.org/community/centers-clinics/
Treatment
The Robert Packard Center for ALS Research at John Hopkins offers further general information on treatment: https://www.alscenter.org/what-is-als/treatment/index.html
The Mayo Clinic provides information on treatment of ALS in general, which may be helpful: https://www.mayoclinic.org/diseases-conditions/amyotrophic-lateral-sclerosis/diagnosis-treatment/treatment/txc-20247219
If you are interested in learning about
Organizations, such as the ALS Association and Muscular Dystrophy Association are great sources for information on clinical trial opportunities and research.
You can find information about participating in a clinical trial as well as learn about resources for travel and lodging assistance, through the Get Involved in Research section of our Web site.
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
-
Amyotrophic Lateral Sclerosis Society of Canada
265 Yorkland Boulevard
Suite 300
Toronto Ontario M2J 1S5
Canada
Telephone: 800-267-4ALS (800-267-4257)
Fax: 416-497-1256
E-mail: [email protected]
Website: https://www.als.ca -
Motor Neurone Disease Association
PO Box 246
Northampton Intl NN1 2PR
United Kingdom
Telephone: 44 160 4 250505
E-mail: [email protected]
Website: https://www.mndassociation.org -
Muscular Dystrophy Association ALS Division
3300 East Sunrise Drive
Amyotrophic Lateral Sclerosis
Tucson, AZ 85718-3208
Telephone: 800-572-1717 or 800-344-4863
Fax: 520-529-5300
E-mail: [email protected]
Website: https://www.mda.org/disease/amyotrophic-lateral-sclerosis -
The ALS Association
1275 K Street, N.W.
Suite 250
Washington, DC, 20005
Toll-free: 1-800-782-4747
Telephone: 202-407-8580
Fax: 202-464-8869
E-mail: [email protected]
Website: https://www.alsa.org
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Where to Start
- The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
In-Depth Information
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Progressive bulbar palsy. Click on the link to view a sample search on this topic.
References
- Motor Neuron Diseases Fact Sheet. National Institute of Neurological Disorders and Stroke (NINDS). 2015; https://www.ninds.nih.gov/Disorders/All-Disorders/Motor-Neuron-Diseases-Information-Page.
- Elman L, McCluskey L. Clinical features of amyotrophic lateral sclerosis and other forms of motor neuron disease. In: Shefner JM ed.,. UpToDate. Waltham, MA: UpToDate; 2015; Accessed 7/29/2015.
- Elman LB and McCluskey L. Diagnosis of amyotrophic lateral sclerosis and other forms of motor neuron disease. UpToDate. 2015; https://www.uptodate.com/contents/diagnosis-of-amyotrophic-lateral-sclerosis-and-other-forms-of-motor-neuron-disease.
Rare Gastroenterology News