Living with Amyotrophic lateral sclerosis type 4
A rare genetic motor neuron disease starting in late childhood or the teen years, with slowly worsening weakness in the hands and feet.
Understanding Amyotrophic lateral sclerosis type 4
It causes slowly worsening, severe weakness and wasting of muscles in the hands, feet, and lower limbs, with changes in how the upper motor neurons work. Feeling stays normal, and the muscles of the mouth and throat (bulbar) are not affected. It involves breakdown of motor neurons in the brain and spinal cord.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Weakness in the muscles far from the body's center
- Muscle wasting
- Upper motor neuron signs (pyramidal signs)
- Babinski sign (a reflex test finding)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in SETX are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
ALS Association may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: ALS Association
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with ALS Association
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the SETX gene cause this condition. It is autosomal dominant, so a changed copy of the gene from one parent can be enough.
Also known as: als 4; als4; als4 - amyotrophic lateral sclerosis type 4; amyotrophic lateral sclerosis 4; amyotrophic lateral sclerosis 4, juvenile; amyotrophic lateral sclerosis caused by mutation in setx
Patient organizations
- ALS AssociationAmyotrophic lateral sclerosis type 4 · United States
You are more than your diagnosis
Perspectives from people navigating life with Amyotrophic lateral sclerosis type 4.
Explore research for Amyotrophic lateral sclerosis type 4
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