Living with Nebulin-related early-onset distal myopathy
A rare inherited muscle condition with slowly worsening weakness in the lower legs, fingers, and neck, starting early in life.
Understanding Nebulin-related early-onset distal myopathy
Weakness and wasting start early and mainly affect the muscles that lift the foot and extend the fingers, as well as the muscles that bend the neck. It is slowly progressive. A muscle biopsy does not always show nemaline rods.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Foot drop
- Weakness in the muscles that extend the fingers
- Weakness in the hand muscles
- Weakness in the muscles that bend the neck
- Tight ankles (flexion contracture)
- High palate
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 NEB 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 Muscular Dystrophy 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
GARD lists changes in the NEB gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: distal nebulin myopathy
Patient organizations
- Muscular Dystrophy AssociationNebulin-related early-onset distal myopathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Nebulin-related early-onset distal myopathy.
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