Living with Congenital myopathy, Paradas type
A rare genetic muscle condition with low muscle tone and weakness starting in infancy.
Understanding Congenital myopathy, Paradas type
Muscle weakness affects the whole body and may slowly get worse. Muscles in the pelvis and the front of the neck are mostly affected. MRI can show early changes in the hamstrings and calf muscles. A blood test (creatine kinase) shows very high levels, sometimes from early childhood, and a muscle biopsy shows no dysferlin protein.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Its summary describes these features:
- Low muscle tone (hypotonia)
- Delayed movement skills
- Muscle weakness that may slowly worsen
- Weak pelvis and neck muscles
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 DYSF 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
It is caused by changes in the DYSF gene. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: congenital muscular dystrophy paradas type; congenital myopathy paradas type
Patient organizations
- Muscular Dystrophy AssociationCongenital myopathy, Paradas type · United States
You are more than your diagnosis
Perspectives from people navigating life with Congenital myopathy, Paradas type.
Explore research for Congenital myopathy, Paradas type
Explore actively recruiting Congenital myopathy, Paradas type studies with HealthSpark.
Find actively recruiting studies for Congenital myopathy, Paradas type with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Congenital myopathy, Paradas type studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Congenital myopathy, Paradas type
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Congenital myopathy, Paradas type experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.