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Infantile-onset ascending hereditary spastic paralysis is one of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and eventual paralysis of the lower limbs (paraplegia). The spasticity and paraplegia result from degeneration (atrophy) of motor neurons, which are specialized nerve cells in the brain and spinal cord that control muscle movement. Hereditary spastic paraplegias are divided into two types: pure and complicated. The pure types involve only the lower limbs, while the complicated types involve additional areas of the nervous system, affecting the upper limbs and other areas of the body. Infantile-onset ascending hereditary spastic paralysis starts as a pure hereditary spastic paraplegia, with spasticity and weakness in the legs only, but as the disorder progresses, the muscles in the arms, neck, and head become involved and features of the disorder are more characteristic of the complicated type.

MalaCards based summary

Infantile-Onset Ascending Hereditary Spastic Paralysis, also known as iahsp, is related to spastic paralysis, infantile-onset ascending and spasticity, and has symptoms including abnormality of eye movement, spastic paraplegia and dysarthria. An important gene associated with Infantile-Onset Ascending Hereditary Spastic Paralysis is ALS2 (ALS2, Alsin Rho Guanine Nucleotide Exchange Factor). The drugs Acetylcholine and Cholinergic Agents have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, brain and eye.

NIH Rare Diseases

Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a neurological disorder characterized by progressive (worsening) 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. IAHSP is caused by mutations in the ALS2 gene and is inherited in an autosomal recessive pattern. Although there is no specific treatment or cure, there may be ways to manage the symptoms, including physical and occupational therapy. A team of doctors is often needed to figure out the treatment options for each person. Last updated: 12/8/2016