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Fazio Londe syndrome
Other Names for this Disease
- Bulbar hereditary motor neuronopathy (HMN) type II
- Bulbar HMN II
- Fazio-Londe disease
- Progressive bulbar paralysis of childhood
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motor neuron disease found in children. This condition is characterized by facial weakness, dysphagia, stridor, dysarthria, and paralysis of the eye muscles. There is evidence that there are at least three distinct subtypes: a very rare autosomal dominant form and two variants with probable autosomal recessive inheritance either with early onset of respiratory symptoms and rapid progression to death or later onset, less prominent respiratory symptoms and lengthy clinical course.Fazio Londe syndrome, also known as progressive bulbar paralysis (or palsy) of childhood, is an inherited
Last updated: 3/9/2010
- McShane MA, Boyd S, Harding B, Brett EM, Wilson J. Brain. 1992; http://www.ncbi.nlm.nih.gov/pubmed/1486466. Accessed 3/9/2010.
- Motor Neuron Diseases Fact Sheet. National Institute of Neurological Disorders and Stroke (NINDS). 2010; http://www.ninds.nih.gov/disorders/motor_neuron_diseases/detail_motor_neuron_diseases.htm. Accessed 3/9/2010.
- Families of SMA has created a booklet entitled Understanding SMA that is intended to serve as a source of information and support for children and adults with Spinal Muscular Atrophy (SMA).
- 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.
- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
In Depth Information
- Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
- The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Fazio Londe syndrome. Click on the link to go to OMIM and review these resources.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Fazio Londe syndrome. Click on the link to view a sample search on this topic.