Living with Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
A rare genetic condition with insulin-dependent diabetes starting young and nervous system problems such as balance trouble and hearing loss.
Understanding Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
People have insulin-dependent diabetes that starts young, plus problems in the brain, spinal cord, and nerves. Features include balance and coordination trouble, hearing loss in both ears, and nerve damage causing weaker feeling and movement. Some people have low thyroid function. Brain imaging may show shrinkage of the brain. Onset varies from infancy to adolescence.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Diabetes
- Balance and coordination problems (ataxia)
- Hearing loss in both ears
- Nerve damage causing weak feeling and movement
- Shrinkage of the brain and cerebellum
- Short stature
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, ear, nose, and throat specialists, genetic specialists and hormone specialists.
- 3Consider genetic testing
Changes in DNAJC3 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
- Brain and nervous system specialists (neurologists); Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists); Hormone specialists (endocrinologists)
- 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
Changes in the DNAJC3 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus; combined cerebellar and peripheral ataxia-deafness-diabetes mellitus syndrome; combined cerebellar and peripheral ataxia-hearing loss-diabetes mellitus syndrome; combined cerebellar and peripheral ataxia, deafness, diabetes mellitus syndrome; combined cerebellar and peripheral ataxia, hearing loss, diabetes mellitus syndrome; juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome
Patient organizations
- National Ataxia FoundationAtaxia · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome.
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