Living with Muscular pseudohypertrophy-hypothyroidism syndrome
A rare condition in which long-standing underactive thyroid causes enlarged-looking muscles, muscle aches, and weakness.
Understanding Muscular pseudohypertrophy-hypothyroidism syndrome
The muscles look bigger, but they are not stronger, because of hypothyroidism (an underactive thyroid) that has lasted a long time. People can have muscle aches and weakness, a large tongue, coarse facial features, and short height. GARD lists onset in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Muscle weakness
- Muscle aches
- Larger-looking muscles
- Underactive thyroid (hypothyroidism)
- Short stature
- Constipation
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 genetic specialists and hormone specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Genetic specialists (geneticists); Hormone specialists (endocrinologists)
- 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, and the summary links it to long-standing hypothyroidism. It doesn't list a specific gene.
Also known as: hoffman syndrome; hoffmann syndrome; kocher debre semelaigne syndrome; kocher-debré-semelaigne syndrome; muscular pseudohypertrophy and hypothyroidism 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 Muscular pseudohypertrophy-hypothyroidism syndrome.
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