Kocher-Debre-Semelaigne syndrome

Common Name(s)

Kocher-Debre-Semelaigne syndrome, Muscular pseudohypertrophy-hypothyroidism, Hoffmann syndrome

Kocher-Debre-Semelaigne syndrome, also known as Muscular pseudohypertrophy – hypothyroidism or Hoffman syndrome is a rare disorder characterized by pseudohypertrophy (increased muscle size, but not related to strength) which is thought to be due to prolonged thyroid hormone deficiency, hypothyroidism, which is sometimes present at birth (please also visit: congenital hypothyroidism.). This syndrome can present between infancy and 10 years of age with symptoms typical of hypothyroidism including: decreased activity, increased sleep, difficulty eating, constipation, yellow colored skin (jaundice), unusually large tongue (macroglossia), and low muscle tone (hypotonia). The pseudohypertrophy of the muscles most commonly affects the muscles of the arms and legs but can also involve the trunk (back, abdomen), hands and feet. Diagnosis can be based on physical examination findings as well as blood tests for thyroid hormone levels. In regions such as the United States and many other countries, most babies are tested for congenital hypothyroidism through newborn screening. Treatment involves medications to regulate thyroid hormone levels and symptoms of this disorder can often be reversed. Talk with a specialist if you or your child has been diagnosed with Kocher-Debre-Semelaigne syndrome.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Kocher-Debre-Semelaigne syndrome" for support, advocacy or research.

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The British Thyroid Foundation

To provide people with the highest standard of support and information based on the best current medical evidence and patient experiences, to work in partnership with medical professionals and patients in order to facilitate a better understanding of thyroid disorders, and to ensure all people have access to appropriate treatment and care.

Last Updated: 13 Jul 2015

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Kocher-Debre-Semelaigne syndrome" for support, advocacy or research.

Logo
The British Thyroid Foundation

To provide people with the highest standard of support and information based on the best current medical evidence and patient experiences, to work in partnership with medical professionals and patients in order to facilitate a better understanding of thyroid disorders, and to ensure all people have access to appropriate treatment and care.

http://www.btf-thyroid.org

Last Updated: 13 Jul 2015

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Kocher-Debre-Semelaigne syndrome" returned 6 free, full-text research articles on human participants. First 3 results:

Kocher Debre Semelaigne syndrome and associated orofacial aspects: report of a case.
 

Author(s): Aditya Patney, Keerthilatha M Pai, Amar A Sholapurkar

Journal: J Oral Sci. 2011 Mar;53(1):129-32.

 

Myopathy and muscular pseudohypertrophy associated with severe congenital hypothyroidism has been described as Kocher Debre Semelaigne syndrome, which is a rare disorder with only a few previously published reports. However, none of these reports have described the orofacial aspects ...

Last Updated: 6 Apr 2011

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Kocher-Debré-Sémélaigne syndrome diagnosed by autopsy associated with disseminated intravascular coagulation.
 

Author(s): Natália Dias B Guimarães, Ana Paula Espindula, Laura Penna Rocha, Janaínna Grazielle Pacheco Olegário, Débora Tavares Resende Silva Abate, Renata Calciolari Rossi e Silva, Camila Lourencini Cavellani, Marlene Antônia dos Reis, Vicente de Paula Antunes Teixeira, Eumenia Costa da Cunha Castro, Rosana Rosa Miranda Corrêa

Journal: Ann Diagn Pathol. 2012 Jan;16(1):54-8.

 

Kocher-Debré-Sémélaigne syndrome is a rare disease with little literature, which develops with myopathy in infancy associated with neuromuscular alterations, polymyositis with symmetrical proximal muscle weakness, pseudohypertrophy, muscular rigidity and spasms, exercise intolerance, ...

Last Updated: 20 Jan 2012

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Kocher-Debre-Semelaigne syndrome.
 

Author(s): Sanwar Agrawal, Prashant Thakur

Journal:

 

A 4-year-old male child presented with severe growth failure and developmental delay. He had hypertrophy of calf muscles and the thyroid profile showed low levels of T3, T4 and markedly elevated level of thyroid-stimulating hormone thus confirming the presence of hypothyroidism. This ...

Last Updated: 17 Jul 2012

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Kocher-Debre-Semelaigne syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.