Infantile-onset ascending hereditary spastic paralysis

Common Name(s)

Infantile-onset ascending hereditary spastic paralysis

Infantile-onset ascending hereditary spastic paralysis is a motor neuron disease characterized by progressive weakness and stiffness of muscles in the arms, legs, and face. Initial symptoms usually occur within the first 2 years of life and include weakness of the legs, leg muscles that are abnormally tight and stiff, and eventual paralysis of the legs. Over time, muscle weakness and stiffness travels up (ascends) the body from the legs to the head. Infantile-onset ascending hereditary spastic paralysisis caused by mutations in the ALS2 gene, and this condition is inherited in an autosomal recessive pattern.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Infantile-onset ascending hereditary spastic paralysis" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Infantile-onset ascending hereditary spastic paralysis" returned 1 free, full-text research articles on human participants. First 3 results:

Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene.
 

Author(s): Eleonore Eymard-Pierre, Gaetan Lesca, Sandra Dollet, Filippo Maria Santorelli, Matteo di Capua, Enrico Bertini, Odile Boespflug-Tanguy

Journal: Am. J. Hum. Genet.. 2002 Sep;71(3):518-27.

 

We studied 15 patients, from 10 families, who presented with severe spastic paralysis with an infantile onset and an ascending progression. Spastic paraplegia began during the first 2 years of life and extended to upper limbs within the next few years. During the first decade of life, ...

Last Updated: 15 Aug 2002

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The terms "Infantile-onset ascending hereditary spastic paralysis" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Genetic and Physical Study of Childhood Nerve and Muscle Disorders
 

Status: Recruiting

Condition Summary: Muscular Dystrophies; Muscle Myopathies; Hereditary Spastic Paraplegias; Inherited Neuropathies; Inherited Neuromuscular Conditions

 

Last Updated: 14 Mar 2014

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