Living with Paramyotonia congenita of Von Eulenburg
A genetic muscle condition with stiffness that worsens with cold and repeated movement, starting in infancy or childhood.
Understanding Paramyotonia congenita of Von Eulenburg
People have bouts of muscle tightening (myotonia) that keep muscles from relaxing. Stiffness often appears after exercise and with cooling, and it gets worse with repeated movement. It mainly affects the face, neck, arms, and hands. Cold can also cause temporary weakness lasting hours, and some older people develop lasting weakness.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Muscle stiffness (myotonia)
- Stiffness made worse by cold
- Weakness after cold exposure
- Stiff hands when gripping
- Stiff face and jaw
- Muscle aches
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 SCN4A 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 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 SCN4A gene cause this condition. It is autosomal dominant, which means one changed copy of the gene is enough to cause it.
Also known as: eulenburg disease; eulenburg syndrome; eulenburg's disease; myotonia congenita intermittens; paralysis periodica paramyotonica; paramyotonia congenita
Patient organizations
- Muscular Dystrophy AssociationParamyotonia congenita of Von Eulenburg · United States
- Periodic Paralysis AssociationParamyotonia congenita of Von Eulenburg · United States
You are more than your diagnosis
Perspectives from people navigating life with Paramyotonia congenita of Von Eulenburg.
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