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Genetics Home Reference: your guide to understanding genetic conditions
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Infantile-onset ascending hereditary spastic paralysis

Reviewed May 2007

What is infantile-onset ascending hereditary spastic paralysis?

Infantile-onset ascending hereditary spastic paralysis is a rare disorder characterized by progressive weakness and stiffness of muscles in the arms, legs, and face. This disorder damages motor neurons, which are specialized nerve cells in the brain and spinal cord that control muscle movement.

Initial symptoms of infantile-onset ascending hereditary spastic paralysis usually occur within the first 2 years of life. These symptoms include weakness of the legs, leg muscles that are abnormally tight and stiff, and eventual paralysis of the legs. People with infantile-onset ascending hereditary spastic paralysis are usually wheelchair-bound by late childhood or early adolescence. Over time, muscle weakness and stiffness travels up (ascends) the body from the legs to the head. By late childhood or early adolescence, arm and hand muscles are affected. Muscles in the neck and head usually weaken during adolescence; symptoms include slow eye movements and difficulty with speech and swallowing.

How common is infantile-onset ascending hereditary spastic paralysis?

Infantile-onset ascending hereditary spastic paralysis is a rare disorder, with a small number of reported cases.

What genes are related to infantile-onset ascending hereditary spastic paralysis?

Mutations in the ALS2 gene cause infantile-onset ascending hereditary spastic paralysis.

The ALS2 gene provides instructions for making a protein called alsin. Alsin is abundant in motor neurons, but its function is not fully understood. Mutations in the ALS2 gene alter the instructions for producing alsin. As a result, alsin is unstable and decays rapidly. It is unclear how the loss of alsin protein damages motor neurons and causes infantile-onset ascending hereditary spastic paralysis.

Related Gene(s)

Changes in this gene are associated with infantile-onset ascending hereditary spastic paralysis.

  • ALS2

How do people inherit infantile-onset ascending hereditary spastic paralysis?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Where can I find information about diagnosis or management of infantile-onset ascending hereditary spastic paralysis?

These resources address the diagnosis or management of infantile-onset ascending hereditary spastic paralysis and may include treatment providers.

  • Gene Review: ALS2-Related Disorders (http://www.ncbi.nlm.nih.gov/books/NBK1243)
  • Genetic Testing Registry: Infantile-onset ascending hereditary spastic paralysis (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1846588)

You might also find information on the diagnosis or management of infantile-onset ascending hereditary spastic paralysis in Educational resources and Patient support.

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about infantile-onset ascending hereditary spastic paralysis?

You may find the following resources about infantile-onset ascending hereditary spastic paralysis helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for infantile-onset ascending hereditary spastic paralysis?

  • IAHSP
  • spastic paralysis, infantile onset ascending

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about infantile-onset ascending hereditary spastic paralysis?

Ask the Genetic and Rare Diseases Information Center (https://rarediseases.info.nih.gov/gard).

What glossary definitions help with understanding infantile-onset ascending hereditary spastic paralysis?

autosomal ; autosomal recessive ; cell ; gene ; hereditary ; inherited ; motor ; protein ; recessive

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

References

  • Eymard-Pierre E, Lesca G, Dollet S, Santorelli FM, di Capua M, Bertini E, Boespflug-Tanguy O. Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene. Am J Hum Genet. 2002 Sep;71(3):518-27. Epub 2002 Jul 26. (http://www.ncbi.nlm.nih.gov/pubmed/12145748?dopt=Abstract)
  • Eymard-Pierre E, Yamanaka K, Haeussler M, Kress W, Gauthier-Barichard F, Combes P, Cleveland DW, Boespflug-Tanguy O. Novel missense mutation in ALS2 gene results in infantile ascending hereditary spastic paralysis. Ann Neurol. 2006 Jun;59(6):976-80. (http://www.ncbi.nlm.nih.gov/pubmed/16718699?dopt=Abstract)
  • Gene Review: ALS2-Related Disorders (http://www.ncbi.nlm.nih.gov/books/NBK1243)
  • Gros-Louis F, Meijer IA, Hand CK, Dubé MP, MacGregor DL, Seni MH, Devon RS, Hayden MR, Andermann F, Andermann E, Rouleau GA. An ALS2 gene mutation causes hereditary spastic paraplegia in a Pakistani kindred. Ann Neurol. 2003 Jan;53(1):144-5. (http://www.ncbi.nlm.nih.gov/pubmed/12509863?dopt=Abstract)
  • Lesca G, Eymard-Pierre E, Santorelli FM, Cusmai R, Di Capua M, Valente EM, Attia-Sobol J, Plauchu H, Leuzzi V, Ponzone A, Boespflug-Tanguy O, Bertini E. Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 families. Neurology. 2003 Feb 25;60(4):674-82. (http://www.ncbi.nlm.nih.gov/pubmed/12601111?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: May 2007
Published: August 3, 2015