Overview
Amyotrophic lateral sclerosis type 4 (ALS4), also known as juvenile amyotrophic lateral sclerosis or distal hereditary motor neuronopathy with upper motor neuron signs, is a very rare inherited form of motor neuron disease. Unlike the more common forms of ALS that typically appear in middle or later adulthood, ALS4 begins in childhood or adolescence, usually before age 25. The disease is caused by mutations in the SETX gene, which provides instructions for making a protein called senataxin. ALS4 affects the motor neurons — the nerve cells that control voluntary muscle movement. Over time, both upper motor neurons (in the brain) and lower motor neurons (in the spinal cord) gradually break down. This leads to progressive muscle weakness and wasting, particularly in the hands, feet, and limbs. Patients often first notice difficulty with fine hand movements or weakness in the legs. Muscle stiffness and increased reflexes are also common due to upper motor neuron involvement. Compared to typical ALS, ALS4 tends to progress much more slowly. Most people with ALS4 retain the ability to walk and breathe independently for many years or even decades. Bulbar function — the ability to speak and swallow — is usually preserved. There is currently no cure for ALS4, and treatment focuses on managing symptoms, maintaining mobility, and preserving quality of life through physical therapy, occupational therapy, and supportive care.
Also known as:
Key symptoms:
Muscle weakness in the hands and feetMuscle wasting, especially in the lower legs and handsMuscle stiffness or spasticityIncreased reflexes (hyperreflexia)Difficulty with fine motor tasks like buttoning clothes or writingWeakness in the legs causing difficulty walking or runningFoot drop (difficulty lifting the front of the foot)Muscle twitching or fasciculationsGradual loss of hand grip strengthClumsiness or frequent tripping
Clinical phenotype terms (8)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Juvenile
Begins in the teen years
Treatments
No FDA-approved treatments are currently listed for Amyotrophic lateral sclerosis type 4.
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Rare Disease Specialist
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Amyotrophic lateral sclerosis type 4.
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2 articlesCaregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.How quickly is this disease likely to progress in my case?,What physical therapy and exercise programs are recommended to maintain my strength?,Are there any clinical trials or experimental treatments I should know about?,Should my family members be tested for the SETX gene mutation?,What assistive devices or braces might help me now or in the future?,How often should I have follow-up appointments and what tests will be done?,Are there any medications that could help manage my symptoms?
Common questions about Amyotrophic lateral sclerosis type 4
What is Amyotrophic lateral sclerosis type 4?
Amyotrophic lateral sclerosis type 4 (ALS4), also known as juvenile amyotrophic lateral sclerosis or distal hereditary motor neuronopathy with upper motor neuron signs, is a very rare inherited form of motor neuron disease. Unlike the more common forms of ALS that typically appear in middle or later adulthood, ALS4 begins in childhood or adolescence, usually before age 25. The disease is caused by mutations in the SETX gene, which provides instructions for making a protein called senataxin. ALS4 affects the motor neurons — the nerve cells that control voluntary muscle movement. Over time, bot
How is Amyotrophic lateral sclerosis type 4 inherited?
Amyotrophic lateral sclerosis type 4 follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Amyotrophic lateral sclerosis type 4 typically begin?
Typical onset of Amyotrophic lateral sclerosis type 4 is juvenile. Age of onset can vary across affected individuals.
Which specialists treat Amyotrophic lateral sclerosis type 4?
10 specialists and care centers treating Amyotrophic lateral sclerosis type 4 are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.