Living with Lichtenstein-Knorr syndrome
A rare inherited condition with worsening hearing loss and balance and coordination problems that can start from infancy to adolescence.
Understanding Lichtenstein-Knorr syndrome
The hearing loss is severe and gets worse over time. Cerebellar signs include unsteady walking, tremor with movement, slurred speech, and rapid eye movements. Onset ranges from infancy to adolescence. Brain scans may show shrinkage of the cerebellum in some people.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Progressive hearing loss
- Poor coordination (ataxia)
- Unsteady walking (gait ataxia)
- Trouble with quick, alternating movements
- Absent reflexes in the arms and legs
- Delayed walking
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 ear, nose, and throat specialists and genetic specialists.
- 3Consider genetic testing
Changes in SLC9A1 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
National Ataxia Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: National Ataxia 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 Ataxia Foundation
- 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 SLC9A1 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: autosomal recessive spinocerebellar ataxia type 19; lichtenstein knorr syndrome; likns; progressive autosomal recessive ataxia-deafness syndrome; progressive autosomal recessive ataxia-sensorineural hearing loss syndrome; progressive autosomal recessive ataxia, deafness syndrome
Patient organizations
- National Ataxia FoundationLichtenstein-Knorr syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Lichtenstein-Knorr syndrome.
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