Juvenile amyotrophic lateral sclerosis

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ORPHA:300605OMIM:205100G12.2
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1Specialists8Treatment centers

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Overview

Juvenile amyotrophic lateral sclerosis (also called juvenile ALS or JALS) is a very rare form of motor neuron disease that begins before the age of 25. Like adult ALS, it affects the nerve cells (motor neurons) in the brain and spinal cord that control voluntary muscle movement. However, juvenile ALS tends to progress more slowly than the adult form. The disease causes gradual muscle weakness, stiffness (spasticity), and wasting (atrophy) in the arms, legs, and sometimes the muscles used for speaking, swallowing, and breathing. Patients may first notice difficulty walking, clumsiness, or weakness in a hand or foot during childhood or adolescence. Unlike typical adult-onset ALS, juvenile ALS is more often caused by inherited genetic mutations rather than occurring sporadically. Several genes have been linked to this condition, and the pattern of inheritance can vary depending on the specific gene involved. The disease course is generally slower than adult ALS, and some patients survive for decades after diagnosis, though disability can be significant over time. There is currently no cure for juvenile ALS. Treatment focuses on managing symptoms and maintaining quality of life. This includes physical therapy, occupational therapy, speech therapy, assistive devices, and medications to manage spasticity and other symptoms. Research into disease-modifying therapies is ongoing, and genetic discoveries are opening new avenues for potential targeted treatments.

Also known as:

Key symptoms:

Progressive muscle weakness in arms and legsMuscle stiffness and spasticityMuscle wasting and thinningDifficulty walking or frequent trippingClumsiness and poor coordinationSlurred or slow speechDifficulty swallowingMuscle twitching or crampingLoss of fine motor skills such as writing or buttoning clothesBreathing difficulties in advanced stagesAbnormal reflexesFoot drop or abnormal gaitFatigue

Clinical phenotype terms (46)— hover any for plain English
Upper limb spasticityHP:0006986Amyotrophic lateral sclerosisHP:0007354Spastic diplegiaHP:0001264Bulbar signsHP:0002483CNS hypomyelinationHP:0003429Lower-limb joint contractureHP:0005750Arm dystoniaHP:0031960Muscle fiber atrophyHP:0100295
Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Juvenile amyotrophic lateral sclerosis.

View clinical trials →

No actively recruiting trials found for Juvenile amyotrophic lateral sclerosis at this time.

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Specialists

1 foundView all specialists →
CM
Christopher Grunseich, M.D.
Bethesda, Maryland
Specialist

Rare Disease Specialist

PI on 5 active trials

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Juvenile amyotrophic lateral sclerosis.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about Juvenile amyotrophic lateral sclerosis

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Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

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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.What specific genetic mutation is causing my child's juvenile ALS, and what does that mean for how the disease may progress?,Are there any clinical trials or experimental treatments available for this specific genetic form of juvenile ALS?,What therapies and interventions should we start now to maintain function as long as possible?,How often should we have follow-up appointments, and what should we be monitoring at home?,Should other family members be tested for the genetic mutation?,What school accommodations should we request, and can you provide documentation?,When should we consider respiratory support or other advanced interventions?

Common questions about Juvenile amyotrophic lateral sclerosis

What is Juvenile amyotrophic lateral sclerosis?

Juvenile amyotrophic lateral sclerosis (also called juvenile ALS or JALS) is a very rare form of motor neuron disease that begins before the age of 25. Like adult ALS, it affects the nerve cells (motor neurons) in the brain and spinal cord that control voluntary muscle movement. However, juvenile ALS tends to progress more slowly than the adult form. The disease causes gradual muscle weakness, stiffness (spasticity), and wasting (atrophy) in the arms, legs, and sometimes the muscles used for speaking, swallowing, and breathing. Patients may first notice difficulty walking, clumsiness, or weakn

Which specialists treat Juvenile amyotrophic lateral sclerosis?

1 specialists and care centers treating Juvenile amyotrophic lateral sclerosis are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.