Editing Kocher–Debre–Semelaigne syndrome (section)

== Presentation ==
The age at which a child presents with KDSS may vary from new born to as late as 11 years of age.<ref name=":2" /> This disease is very rare as only less than 10% of children with hypothyroid myopathy develops this condition.{{Citation needed|date=July 2023}} Along with features of [[hypothyroidism]] (such as lethargy, slow heart rate, cold intolerance, dry skin, and hoarse voice) the main additional feature is muscle hypertrophy. It can happen in any muscle of the limbs, but commonly affects the calf muscles, giving the typical Herculean appearance.<ref name=":2">{{Cite journal|last1=Tullu|first1=Milind S.|last2=Udgirkar|first2=Vardhaman S.|last3=Muranjan|first3=Mamta N.|last4=Sathe|first4=Shefali A.|last5=Kamat|first5=Jaishree R.|date=2003-08-01|title=Kocher-Debre-Semelaigne syndrome: Hypothyroidism with muscle pseudohypertrophy|url=https://doi.org/10.1007/BF02724260|journal=The Indian Journal of Pediatrics|language=en|volume=70|issue=8|pages=671–673|doi=10.1007/BF02724260|pmid=14510090 |s2cid=40709054 |issn=0973-7693}}</ref>

Other features are pseudo[[myotonia]], [[myokymia]], slow tendon reflex, slowed muscle contractions and relaxations, muscle stiffness, proximal muscle weakness and myopathy. The severity of these symptoms are determined by the period of hypothyroidism and the degree of deficiency of thyroid hormones.<ref>{{Cite journal|last1=Klein|first1=Irwin|last2=Mantell|first2=Paul|last3=Parker|first3=Mitchell|last4=Levey|first4=Gerald S.|date=May 1980|title=Resolution of abnormal muscle enzyme studies in hypothyroidism|journal=The American Journal of the Medical Sciences|language=en|volume=279|issue=3|pages=159–162|doi=10.1097/00000441-198005000-00004|pmid=7424961|s2cid=11587035}}</ref> It may also include [[macroglossia]].<ref>{{Cite journal |last1=Shaw |first1=Chandan |last2=Shaw |first2=Prachi |date=2012 |title=Kocher-Debre-Semelaigne Syndrome: Hypothyroid Muscular Pseudohypertrophy—A Rare Report of Two Cases |journal=Case Reports in Endocrinology |volume=2012 |pages=153143 |doi=10.1155/2012/153143 |issn=2090-6501 |pmc=3420572 |pmid=22934196 |doi-access=free }}</ref>

EMG is either normal or may show myopathic low amplitude and short duration motor unit action potentials (MUAPS).<ref>{{Cite journal|last1=Rajvanshi|first1=Satyam|last2=Rai|first2=GopalK|last3=Philip|first3=Rajeev|last4=Gupta|first4=KK|date=2012|title=Kocher-Debre-Semelaigne syndrome|journal=Thyroid Research and Practice|volume=9|issue=2|pages=53|doi=10.4103/0973-0354.96047|issn=0973-0354 |doi-access=free }}</ref> The enzymes creatine kinase is elevated usually.