Living with Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome
A very rare inherited syndrome with intellectual disability, nerve damage, short stature, short fingers and early loss of ovary function.
Understanding Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome
Other features include short stature, short limbs, short fingers and toes, and early loss of ovary function (premature ovarian insufficiency). Only one family with three affected females has been described, and there have been no further descriptions in the literature since 1971.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Intellectual disability
- Nerve damage in the arms and legs (polyneuropathy)
- Muscle weakness and trouble walking
- Short stature and short limbs
- Short fingers and toes
- Weight gain around the trunk
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
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 disease patient organizations for support
- 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 but doesn't name a gene or describe an inheritance pattern.
Also known as: lundberg syndrome; polyneuropathy, intellectual disability, acromicria, premature menopause syndrome
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome.
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