Living with Mucolipidosis type IV
An inherited condition with delayed development and vision loss that gets worse over time.
Understanding Mucolipidosis type IV
About 95 percent of people have the severe (typical) form and about 5 percent have the milder (atypical) form. In the typical form, development is moderately to severely delayed, usually seen in the first year. People have intellectual disability, limited or absent speech, trouble chewing and swallowing, and muscle tone that goes from weak to stiff. Most cannot walk independently. Vision is clouded, with severe vision loss by the early teens. Stomach acid production is low but usually causes no symptoms.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delayed development
- Intellectual disability
- Limited or absent speech
- Clouding of the cornea and retina disease
- Low muscle tone that turns into stiffness
- Trouble 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 brain and nervous system specialists, eye disease specialists, genetic specialists and seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in MCOLN1 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); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- 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 Cure Mucolipidosis 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
This condition is caused by changes in the MCOLN1 gene. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: ml 4; ml iv; ml4; mliv; mucolipidosis iv; mucolipidosis type 4
Patient organizations
- Cure MucolipidosisMucolipidosis type IV · United States
- Mucolipidosis Type IV Foundation, Inc.Mucolipidosis type IV · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Mucolipidosis type IV.
Explore research for Mucolipidosis type IV
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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