Rare Medical News

Disease Profile

Progressive bulbar palsy

Prevalence
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.

Unknown

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

no.svg

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

no.svg

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.

no.svg

X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

no.svg

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.

no.svg

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.

no.svg

Not applicable

no.svg

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

Progressive bulbar palsy is a difficult to diagnose condition. No one test or procedure offers a definitive diagnosis. Diagnosis is largely based upon the person's symptoms, tests that show how well their nerves are working (e.g., an EMG or electromyography), and ruling out other causes for the symptoms. Particularly, stroke and a condition called myasthenia gravis, may have certain symptoms that are similar to those of progressive bulbar palsy and must be ruled out prior to diagnosing this disorder.[1][3] Testing for acetylcholine receptor-binding antibodies may be helpful in ruling out myasthenia gravis.[2]

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

Treatments aim to help people cope with the symptoms of progressive bulbar palsy, such as feeding tubes, devices to help with talking, and medicines to treat muscle spasms, weakness, drooling, sleep problems, pain, and depression.[1][3][2]

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 clinical trials, we recommend that you call the Patient Recruitment and Public Liaison (PRPL) Office at the National Institutes of Health (NIH) at 1-800-411-1222.

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

    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

      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

        1. 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.
        2. 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.
        3. 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 Medical News

        fascinating Rare disease knowledge right in your inbox
        Subscribe to receive