Living with Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1
A rare genetic condition starting in infancy that affects the brain, hearing, hormones, and the pancreas's digestive function.
Understanding Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1
People have global developmental delay, a head that grows slowly after birth, intellectual disability, poor coordination, hearing loss, and trouble digesting food because the pancreas makes too few digestive enzymes. Other features can include low muscle tone, slow growth, nerve problems, hormone differences, and facial differences. Brain imaging may show loss of cerebellum tissue.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delayed development
- Poor coordination (ataxia)
- Hearing loss (sensorineural)
- Trouble digesting food (exocrine pancreatic insufficiency)
- Diabetes
- Poor weight gain (failure to thrive)
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, digestive system specialists, ear, nose, and throat specialists and genetic specialists.
- 3Consider genetic testing
Changes in PTRH2 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
The Foundation for Peripheral Neuropathy may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Digestive system specialists (gastroenterologists); Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: The Foundation for Peripheral Neuropathy
- 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 The Foundation for Peripheral Neuropathy 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
GARD lists changes in the PTRH2 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: imnepd; imnepd1; infantile multisystem neurologic-endocrine-pancreatic disease; infantile-onset multisystem neurologic, endocrine, and pancreatic disease
Patient organizations
- The Foundation for Peripheral NeuropathyPeripheral neuropathy · United States
- Neuropathy Action FoundationPeripheral neuropathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1.
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