Living with Werdnig-Hoffmann disease
A genetic condition (spinal muscular atrophy type 1) that affects nerve cells controlling muscles, with signs in early infancy.
Understanding Werdnig-Hoffmann disease
Without treatment, symptoms appear before 6 months of age. They include worsening muscle weakness and low muscle tone, and may include feeding and breathing problems. GARD says SMA is now on the recommended newborn screening list in the United States, so it can be found before symptoms start.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Muscle weakness that worsens
- Low muscle tone (hypotonia)
- Poor head control
- Feeding problems
- Breathing problems and repeated respiratory infections
- Tongue 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
Werdnig-Hoffmann disease is caused by changes in the SMN1 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: hereditary motor neuropathy proximal type i; hmn (hereditary motor neuropathy) proximal type i; infantile spinal muscular atrophy; infantile-onset spinal muscular atrophy; muscular atrophy, infantile; progressive muscular atrophy of infancy
Patient organizations
- Cure SMAWerdnig-Hoffmann disease · United States
- Muscular Dystrophy AssociationWerdnig-Hoffmann disease · United States
- Gwendolyn Strong FoundationWerdnig-Hoffmann disease · United States
You are more than your diagnosis
Perspectives from people navigating life with Werdnig-Hoffmann disease.
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