Living with Syndromic X-linked intellectual disability Najm type
An X-linked brain condition with cerebellum differences and a range from mild to severe learning disability, sometimes with eye movement problems.
Understanding Syndromic X-linked intellectual disability Najm type
Features range from mild intellectual disability, with or without shaky eye movements (nystagmus), to severe cognitive impairment. Brain scans may show small cerebellum and pons and differences in the brain's outer layer. Signs may begin in the newborn or infant years.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Intellectual disability, mild to severe
- Small head size
- Shaky eye movements (nystagmus)
- Low muscle tone as a baby
- Muscle stiffness and trouble walking
- Seizures
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 and genetic specialists.
- 3Consider genetic testing
Changes in CASK are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 Angelina Cask Neurological Research 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 CASK gene cause this condition. It is X-linked, meaning the gene is on the X chromosome.
Also known as: intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia, x-linked dominant; intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasia; intellectual disability and microcephaly with pontine and cerebellar hypoplasia; intellectual disability, x-linked, syndromic, najm type; micpch; micpch syndrome
Patient organizations
- Angelina Cask Neurological Research FoundationSyndromic X-linked intellectual disability Najm type · United States
- CASK Gene FoundationSyndromic X-linked intellectual disability Najm type · United States
- Simons SearchlightSyndromic X-linked intellectual disability Najm type · United States
You are more than your diagnosis
Perspectives from people navigating life with Syndromic X-linked intellectual disability Najm type.
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