Living with Neurodevelopmental disorder with severe motor impairment and absent language
A rare genetic condition starting in early infancy with severe motor delays, little or no speech, and learning and behavior differences.
Understanding Neurodevelopmental disorder with severe motor impairment and absent language
Children have delayed motor milestones, severe intellectual disability, and speech that is greatly delayed or doesn't develop. Many have low muscle tone, an unsteady walk, and feeding difficulties. Behavior concerns are common and can include features of autism, aggression, and hand-flapping. Some cannot walk. Seizures, hearing loss, sleep problems, and very flexible joints can also occur.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Little or no speech
- Delayed motor skills
- Low muscle tone
- Unsteady walking (ataxia)
- Feeding difficulties
- Autistic behaviors
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 and genetic specialists.
- 3Consider genetic testing
Changes in DHX30 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); 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 Rare Remy 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 lists changes in the DHX30 gene. The condition is autosomal dominant, which means one changed copy of the gene can be enough to cause it.
Also known as: dhx30-related complex neurodevelopmental disorder; neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome; neurodevelopmental disorder with variable motor and language impairment
Patient organizations
- Rare Remy FoundationNeurodevelopmental disorder with severe motor impairment and absent language · United States
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