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muscular pseudohypertrophy-hypothyroidism syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

muscular pseudohypertrophy-hypothyroidism syndrome

MONDO:0016521

Also known as:Kocher-Debre-Semelaigne syndromeKocher-Debré-Semelaigne syndromeHoffman syndrome

Overview

Muscular pseudohypertrophy - hypothyroidism, also known as Kocher-Debre-Semelaigne syndrome is a rare disorder characterized by pseudohypertrophy of muscles due to longstanding hypothyroidism.

Diagnosis

Biomarker and diagnostic research for muscular pseudohypertrophy-hypothyroidism syndrome has been reported in the published literature.

Prognosis

Estimated prevalence: Unknown (Unknown prevalence).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for muscular pseudohypertrophy-hypothyroidism syndrome.

204 publications have been identified in PubMed for muscular pseudohypertrophy-hypothyroidism syndrome. Kisho has analyzed 139 by research type. Research spans Review / Meta-Analysis (34%), Case Report / Case Series (18%), and Basic Science / Preclinical (17%).

Research Type	Count	% of Total
Research summaries	47	34%

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 11:13 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:2349

GARD

Genetic and Rare Diseases Info Center

GARD:8270

Questions for Your Care Team

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muscular pseudohypertrophy-hypothyroidism syndrome

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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