Living with KLHL9-related early-onset distal myopathy
A rare genetic muscle condition with slowly worsening weakness in the lower legs and hands, starting in childhood.
Understanding KLHL9-related early-onset distal myopathy
It starts with the front of the lower leg, then the small muscles of the hands, along with reduced feeling in the hands and feet. In the first or second decade, people have a high-stepping walk, absent ankle reflexes, and tight ankles. Later involvement of muscles closer to the body is moderate, and walking is kept throughout life.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Slowly worsening weakness in the lower legs and hands
- Muscle wasting in the ankles and hands
- High-stepping walk
- Reduced feeling in the hands and feet
- Absent knee and ankle reflexes
- Tight ankles (contractures)
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 KLHL9 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
Changes in the KLHL9 gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene is enough to cause it.
Also known as: kelch like family member 9 related early-onset distal myopathy
Patient organizations
- Muscular Dystrophy AssociationKLHL9-related early-onset distal myopathy · United States
You are more than your diagnosis
Perspectives from people navigating life with KLHL9-related early-onset distal myopathy.
Explore research for KLHL9-related early-onset distal myopathy
Explore actively recruiting KLHL9-related early-onset distal myopathy studies with HealthSpark.
Find actively recruiting studies for KLHL9-related early-onset distal myopathy 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 KLHL9-related early-onset distal myopathy 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 KLHL9-related early-onset distal myopathy
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 KLHL9-related early-onset distal myopathy 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.