Living with Central nervous system calcification-deafness-tubular acidosis-anemia syndrome
A rare genetic condition with calcium deposits in the brain, hearing loss, slow growth, and anemia, starting in infancy.
Understanding Central nervous system calcification-deafness-tubular acidosis-anemia syndrome
Calcium builds up in the brain and spinal cord over time. Other features include slow growth, loss of skills, hearing loss, a type of anemia, and sometimes a kidney problem called distal renal tubular acidosis.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Hearing loss (no response on brainstem hearing tests)
- No speech development
- Slow growth
- Anemia with small, pale red blood cells
- Shrinking of the brain (cerebral atrophy)
- Head shaking (head titubation)
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 allergy and immune system specialists, brain and nervous system specialists, ear, nose, and throat specialists and genetic specialists.
- 3Consider genetic testing
Changes in KARS1 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
Immune Deficiency Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Allergy and immune system specialists (allergists / immunologists); Brain and nervous system specialists (neurologists); Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Immune Deficiency 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 National Kidney 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 KARS1 gene cause this condition. It is inherited in an autosomal recessive way, so a child inherits a changed copy of the gene from each parent.
Also known as: central nervous system calcification-hearing loss-tubular acidosis-anemia syndrome; central nervous system calcification, deafness, tubular acidosis, anemia syndrome; yoshimura takeshita syndrome; yoshimura-takeshita syndrome
Patient organizations
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
- Immune Deficiency FoundationPrimary immunodeficiency · United States
You are more than your diagnosis
Perspectives from people navigating life with Central nervous system calcification-deafness-tubular acidosis-anemia syndrome.
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