Living with Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
A genetic condition with delayed development in infancy, delayed walking, poor speech, and a small head that grows slowly.
Understanding Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
People have global developmental delay, delayed walking with changes in how they walk, impaired intellectual development, poor or absent speech, and a head that gets smaller relative to age (progressive microcephaly). Other features can include low muscle tone, seizures, and nerve problems. In many people it follows a course of worsening nervous system function.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small head (microcephaly)
- Delayed sitting and walking
- Delayed speech and language
- Low muscle tone
- Seizures
- Reduced reflexes
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- 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 The Rory Belle 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
GARD says changes in genes cause this condition. A child inherits a changed copy of a gene from each parent (autosomal recessive).
Also known as: nedmilg, ar; neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive
Patient organizations
- The Rory Belle FoundationNeurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities · United States
You are more than your diagnosis
Perspectives from people navigating life with Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities.
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