Editing Kocher–Debre–Semelaigne syndrome (section)

== Differential diagnoses ==
Diseases known to have a [[pseudoathletic appearance]] of the calves ([[Muscle hypertrophy|hypertrophy]] or [[pseudohypertrophy]]), including exercise intolerance and/or muscle weakness:

* [[Hoffmann syndrome]] (adult-onset hypothyroid myopathy),
* [[Glycogen storage disease]] (GSD-V, & late-onset GSD-II),<ref>{{Cite journal |last1=Rodríguez-Gómez |first1=I. |last2=Santalla |first2=A. |last3=Díez-Bermejo |first3=J. |last4=Munguía-Izquierdo |first4=D. |last5=Alegre |first5=L. M. |last6=Nogales-Gadea |first6=G. |last7=Arenas |first7=J. |last8=Martín |first8=M. A. |last9=Lucía |first9=A. |last10=Ara |first10=I. |date=November 2018 |title=Non-osteogenic muscle hypertrophy in children with McArdle disease |url=https://pubmed.ncbi.nlm.nih.gov/29594644/ |journal=Journal of Inherited Metabolic Disease |volume=41 |issue=6 |pages=1037–1042 |doi=10.1007/s10545-018-0170-7 |issn=1573-2665 |pmid=29594644|hdl=10578/19657 |s2cid=4394513 |hdl-access=free }}</ref><ref>{{Cite journal |last1=Menon |first1=M. Suraj |last2=Roopch |first2=P. Sreedharan |last3=Kabeer |first3=K. Abdulkhayar |last4=Shaji |first4=C. Velayudhan |date=July 2016 |title=Calf Muscle Hypertrophy in Late Onset Pompe's Disease |url=https://journals.lww.com/armh/Fulltext/2016/04020/Calf_Muscle_Hypertrophy_in_Late_Onset_Pompe_s.22.aspx |journal=Archives of Medicine and Health Sciences |language=en-US |volume=4 |issue=2 |pages=251 |doi=10.4103/2321-4848.196188 |s2cid=58424073 |issn=2321-4848|doi-access=free }}</ref>
* [[Channelopathy|Non-dystrophic myotonias]] and pseudo[[myotonia]]s (such as [[Myotonia congenita]] and [[Brody myopathy|Brody disease]]),<ref>{{Cite journal |last1=Stunnenberg |first1=Bas C. |last2=LoRusso |first2=Samantha |last3=Arnold |first3=W. David |last4=Barohn |first4=Richard J. |last5=Cannon |first5=Stephen C. |last6=Fontaine |first6=Bertrand |last7=Griggs |first7=Robert C. |last8=Hanna |first8=Michael G. |last9=Matthews |first9=Emma |last10=Meola |first10=Giovanni |last11=Sansone |first11=Valeria A. |last12=Trivedi |first12=Jaya R. |last13=van Engelen |first13=Baziel G.M. |last14=Vicart |first14=Savine |last15=Statland |first15=Jeffrey M. |date=October 2020 |title=Guidelines on clinical presentation and management of nondystrophic myotonias |journal=Muscle & Nerve |volume=62 |issue=4 |pages=430–444 |doi=10.1002/mus.26887 |issn=0148-639X |pmc=8117169 |pmid=32270509}}</ref>
* [[Limb–girdle muscular dystrophy|Limb-girdle muscular dystrophy]],<ref>{{Cite journal |last=de Visser |first=Marianne |date=2020-12-01 |title=Late-onset myopathies: clinical features and diagnosis |journal=Acta Myologica |volume=39 |issue=4 |pages=235–244 |doi=10.36185/2532-1900-027 |issn=1128-2460 |pmc=7783434 |pmid=33458579}}</ref>
* [[Duchenne muscular dystrophy|Duchenne]] and [[Becker muscular dystrophy]]
* Focal [[myositis]],
* [[Sarcoid granuloma]]s, and
* [[Amyloid]] deposits in muscles<ref name=":1" />

Thyroid metabolism can be disrupted secondary to a primary disease. A common [[comorbidity]] of the [[metabolic myopathy]] McArdle disease (Glycogen storage disease type V) is hypothyroidism.<ref>{{Cite journal |last1=Lucia |first1=Alejandro |last2=Martinuzzi |first2=Andrea |last3=Nogales-Gadea |first3=Gisela |last4=Quinlivan |first4=Ros |last5=Reason |first5=Stacey |last6=International Association for Muscle Glycogen Storage Disease study group |date=December 2021 |title=Clinical practice guidelines for glycogen storage disease V & VII (McArdle disease and Tarui disease) from an international study group |journal=Neuromuscular Disorders |volume=31 |issue=12 |pages=1296–1310 |doi=10.1016/j.nmd.2021.10.006 |issn=1873-2364 |pmid=34848128|s2cid=240123241 |doi-access=free }}</ref><ref>{{Cite journal |last1=Scalco |first1=Renata S. |last2=Lucia |first2=Alejandro |last3=Santalla |first3=Alfredo |last4=Martinuzzi |first4=Andrea |last5=Vavla |first5=Marinela |last6=Reni |first6=Gianluigi |last7=Toscano |first7=Antonio |last8=Musumeci |first8=Olimpia |last9=Voermans |first9=Nicol C. |last10=Kouwenberg |first10=Carlyn V. |last11=Laforêt |first11=Pascal |last12=San-Millán |first12=Beatriz |last13=Vieitez |first13=Irene |last14=Siciliano |first14=Gabriele |last15=Kühnle |first15=Enrico |date=2020-11-24 |title=Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC) |journal=Orphanet Journal of Rare Diseases |volume=15 |issue=1 |pages=330 |doi=10.1186/s13023-020-01562-x |issn=1750-1172 |pmc=7687836 |pmid=33234167 |doi-access=free }}</ref> It is also a comorbidity of late-onset Pompe disease (Glycogen storage disease type II).<ref>{{Cite journal |last1=Schneider |first1=Joseph |last2=Burmeister |first2=Lynn A. |last3=Rudser |first3=Kyle |last4=Whitley |first4=Chester B. |last5=Jarnes Utz |first5=Jeanine |date=2016-07-01 |title=Hypothyroidism in late-onset Pompe disease |journal=Molecular Genetics and Metabolism Reports |volume=8 |pages=24–27 |doi=10.1016/j.ymgmr.2016.06.002 |issn=2214-4269 |pmc=4932620 |pmid=27408821}}</ref><ref>{{Cite journal |last1=Fatehi |first1=Farzad |last2=Ashrafi |first2=Mahmoud Reza |last3=Babaee |first3=Marzieh |last4=Ansari |first4=Behnaz |last5=Beiraghi Toosi |first5=Mehran |last6=Boostani |first6=Reza |last7=Eshraghi |first7=Peyman |last8=Fakharian |first8=Atefeh |last9=Hadipour |first9=Zahra |last10=Haghi Ashtiani |first10=Bahram |last11=Moravej |first11=Hossein |last12=Nilipour |first12=Yalda |last13=Sarraf |first13=Payam |last14=Sayadpour Zanjani |first14=Keyhan |last15=Nafissi |first15=Shahriar |date=2021-09-21 |title=Recommendations for Infantile-Onset and Late-Onset Pompe Disease: An Iranian Consensus |journal=Frontiers in Neurology |volume=12 |pages=739931 |doi=10.3389/fneur.2021.739931 |issn=1664-2295 |pmc=8490649 |pmid=34621239 |doi-access=free }}</ref> As both hyper- and hypothyroidism disrupts muscle glycogen metabolism, it is important to keep in mind differential diagnoses and their comorbidities when trying to determine whether signs and symptoms are either [[Disease#Concepts|primary or secondary disease]].<ref>{{Cite journal |last1=Rodolico |first1=Carmelo |last2=Bonanno |first2=Carmen |last3=Pugliese |first3=Alessia |last4=Nicocia |first4=Giulia |last5=Benvenga |first5=Salvatore |last6=Toscano |first6=Antonio |date=2020-09-01 |title=Endocrine myopathies: clinical and histopathological features of the major forms |journal=Acta Myologica |volume=39 |issue=3 |pages=130–135 |doi=10.36185/2532-1900-017 |issn=1128-2460 |pmc=7711326 |pmid=33305169}}</ref><ref>{{Citation |last1=Fariduddin |first1=Maria M. |title=Hypothyroid Myopathy |date=2022-08-08 |url=https://www.ncbi.nlm.nih.gov/books/NBK519513/ |work=StatPearls [Internet] |access-date=2023-07-10 |publisher=StatPearls Publishing |language=en |pmid=30137798 |last2=Bansal |first2=Nidhi}}</ref><ref>{{Cite journal |last1=Dimitriadis |first1=G D |last2=Leighton |first2=B |last3=Parry-Billings |first3=M |last4=West |first4=D |last5=Newsholme |first5=E A |date=1989-01-15 |title=Effects of hypothyroidism on the sensitivity of glycolysis and glycogen synthesis to insulin in the soleus muscle of the rat. |journal=Biochemical Journal |volume=257 |issue=2 |pages=369–373 |doi=10.1042/bj2570369 |issn=0264-6021 |pmc=1135589 |pmid=2649073}}</ref><ref>{{Cite journal |last1=Celsing |first1=F. |last2=Blomstrand |first2=E. |last3=Melichna |first3=J. |last4=Terrados |first4=N. |last5=Clausen |first5=N. |last6=Lins |first6=P. E. |last7=Jansson |first7=E. |date=April 1986 |title=Effect of hyperthyroidism on fibre-type composition, fibre area, glycogen content and enzyme activity in human skeletal muscle |url=https://pubmed.ncbi.nlm.nih.gov/2937605/ |journal=Clinical Physiology |volume=6 |issue=2 |pages=171–181 |doi=10.1111/j.1475-097x.1986.tb00066.x |issn=0144-5979 |pmid=2937605}}</ref><ref>{{Cite journal |last=Brenta |first=Gabriela |date=2011 |title=Why Can Insulin Resistance Be a Natural Consequence of Thyroid Dysfunction? |journal=Journal of Thyroid Research |volume=2011 |pages=152850 |doi=10.4061/2011/152850 |issn=2090-8067 |pmc=3175696 |pmid=21941681 |doi-access=free }}</ref>