Living with Kugelberg-Welander disease
A genetic condition in which nerve cells controlling muscles slowly break down, causing weakness mostly in the hips, thighs, and shoulders.
Understanding Kugelberg-Welander disease
Nerve cells in the spinal cord and lower brain stem that control muscles degenerate. Weakness is greater in the legs than the arms. It starts between about 18 months of age and adulthood. Movement skills vary, but walking is typically gained.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Weakness in the upper arms and upper legs
- Muscle wasting in the hips, thighs, and shoulders
- Absent knee and ankle reflexes
- Muscle spasms
- Hand tremor
- Muscle twitching
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 SMN1 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
Muscular Dystrophy 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: Muscular Dystrophy 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 Cure SMA and other patient organizations
- 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 SMN1 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: familial spinal muscular atrophy; juvenile spinal muscular atrophy; kugelberg welander syndrome; kugelberg-welander syndrome; muscular atrophy, juvenile; proximal spinal muscular atrophy type 3
Patient organizations
- Cure SMAKugelberg-Welander disease · United States
- Muscular Dystrophy AssociationKugelberg-Welander disease · United States
- Gwendolyn Strong FoundationKugelberg-Welander disease · United States
You are more than your diagnosis
Perspectives from people navigating life with Kugelberg-Welander disease.
Explore research for Kugelberg-Welander disease
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- Recruiting studies from ClinicalTrials.gov
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