Living with Allan-Herndon-Dudley syndrome
A rare brain development disorder in males that causes intellectual disability and movement problems.
Understanding Allan-Herndon-Dudley syndrome
It occurs only in males and affects development before birth. Speech is limited, but affected males seem to enjoy interacting with people. Most children have low muscle tone and underdeveloped muscles. Later, joints can become stiff (contractures), and muscle stiffness, weakness, and involuntary movements limit mobility. Many people can't walk independently and use a wheelchair by adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delayed walking
- Low muscle tone (hypotonia)
- Trouble with balance and coordination (ataxia)
- Slow or limited movement
- Twisting, writhing movements (choreoathetosis)
- Changes in thyroid function
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, genetic specialists and hormone specialists.
- 3Consider genetic testing
Changes in SLC16A2 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
Spastic Paraplegia Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Hormone specialists (endocrinologists)
- Expert care
- Expert lists: Spastic Paraplegia 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 MCT8-AHDS 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 SLC16A2 gene cause this condition, and it is inherited in an X-linked way.
Also known as: ahds; allan-herndon syndrome; mct8 (slc16a2)-specific thyroid hormone cell transporter deficiency; mct8 deficiency; mct8-specific thyroid hormone cell membrane transporter deficiency; mct8-specific thyroid hormone cell transporter deficiency
Patient organizations
- MCT8-AHDS FoundationAllan-Herndon-Dudley syndrome · United States
- Spastic Paraplegia FoundationHereditary spastic paraplegia · United States
You are more than your diagnosis
Perspectives from people navigating life with Allan-Herndon-Dudley syndrome.
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