Living with Hypotonia, infantile, with psychomotor retardation and characteristic facies 3
A condition, also called TBCK-related neurodevelopmental disorder, with low muscle tone from birth, muscle weakness, and breathing and development problems.
Understanding Hypotonia, infantile, with psychomotor retardation and characteristic facies 3
People have significant developmental and breathing problems. Most do not walk independently or speak. Severe low muscle tone from birth can cause feeding trouble, and many need a feeding tube. Weakness reaches the distal (far) muscles first, then the proximal (near) muscles. Breathing problems worsen, and many need nighttime breathing support. Seizures are common. It is seen in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Severely low muscle tone from birth
- Severe global developmental delay
- Inability to walk
- Progressive muscle weakness
- Breathing problems
- Seizures
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 TBCK 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
Epilepsy Foundation 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: Epilepsy Foundation
- 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 Epilepsy Foundation 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 TBCK gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: hypotonia, infantile, with psychomotor retardation and characteristic facies type 3; ihprf3; tbc1 domain containing kinase-related intellectual disability syndrome; tbck-related intellectual disability syndrome
Patient organizations
- Epilepsy FoundationHypotonia, infantile, with psychomotor retardation and characteristic facies 3 · United States
- The TBCK FoundationHypotonia, infantile, with psychomotor retardation and characteristic facies 3 · United States
You are more than your diagnosis
Perspectives from people navigating life with Hypotonia, infantile, with psychomotor retardation and characteristic facies 3.
Explore research for Hypotonia, infantile, with psychomotor retardation and characteristic facies 3
Explore actively recruiting Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 studies with HealthSpark.
Find actively recruiting studies for Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 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 Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 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 Hypotonia, infantile, with psychomotor retardation and characteristic facies 3
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 Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 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.