Amyotrophic lateral sclerosis type 4
Synonyms: ALS4 | Distal hereditary motor neuropathy with upper motor neuron signs | dHMN with upper motor neuron signs
A rare genetic motor neuron disease characterized by late childhood- or adolescent-onset of slowly progressive severe distal limb muscle weakness and wasting in association with pyramidal signs normal sensation and absence of bulbar involvement leading to degeneration of motor neurons in the brain and spinal cord.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version February 2024
Newly diagnosed with
Amyotrophic lateral sclerosis type 4?
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COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Genetic Support Network of Victoria
The Genetic Support Network of Victoria is an organisation that supports people living with genetic, undiagnosed and rare conditions and those who support them including community and families, patient support organisations, health professionals and industry. Our vision is our community flourishing and living their best lives.
KIF1A.ORG is a global community dedicated to improving the lives of those affected by KIF1A Associated Neurological Disorder (KAND) and accelerating research to find a cure.
To fund research for treatment and/or a cure for CASK Gene Disorder
patriot for growth and development initiative
Patriots for Growth and Development Initiatives (PGDI), is dedicated to creating a sustainable and equitable world where everyone has access to basic amenities, quality education, decent healthcare, and good livelihoods. Our mission is to promote sustainable development, democracy and good governance, anti-corruption, and accountability, health with a specific focus on rare diseases.
For a list of clinical trials in this disease area, please click here.