Variants
Sign InSign Up

Juvenile amyotrophic lateral sclerosis

Your Results

Sign In

Description

A very rare severe motor neuron disease with manifestation of progressive upper and lower motor neuron degeneration causing facial spasticity, dysarthria, and gait disorders with onset before 25 years of age. The disease is usually slowly progressive and some patients have been reported to become bedridden by 12 to 50 years of age. Mutations in the following genes have been found in patients ALS2 (2q33-q35), and rarely SIGMAR1 (9p13.3), SPG11 (15q13-q15) and FUS (16p11.2).

SNOMEDCT_US

  • Mode of Inheritance

    VARIANTS

    9

    SEE THE VARIANTS →

    Genes

    External Links

    • OMIM
    • Orphanet

      300605

    • HPO
    • Medgen

      C3468114

    © 2024 Biocodify. All rights reserved.

    TwitterTwitter

    Product

    HomePricingDashboard

    Stay up to date

    The latest news and updates from Biocodify, sent to your inbox.