Jokela type spinal muscular atrophy
Jokela type spinal muscular atrophy (SMAJ), also known as late-onset spinal motor neuronopathy (LOSMoN), is a slowly progressing neuromuscular disorder.[1] It is caused by a mutation in the CHCHD10 gene[2] and is inherited in an autosomal dominant pattern.[1]
Symptoms[edit | edit source]
The first symptoms include muscle cramps and muscle twitches affecting the upper and lower limbs, usually after age of 40. The disease is slowly progressive with adult onset and results in weakness and mild muscle atrophy.[1][3] The disease does not affect life expectancy.[1] However, it is difficult to differentiate the disease from a more fatal amyotrophic lateral sclerosis in diagnosis.[1]
Epidemiology[edit | edit source]
As of 2016[update]
it has been found only in Finland.[4]
History[edit | edit source]
The disease was first described by Manu Jokela in 2011.[3][1][4]
See also[edit | edit source]
Lua error in mw.title.lua at line 318: bad argument #2 to 'title.new' (unrecognized namespace name 'Portal').
References[edit | edit source]
- ↑ 1.0 1.1 1.2 1.3 1.4 1.5 "Uusi hitaasti etenevä motoneuronitauti löydetty Suomesta (Väitös: LL Manu Jokela, 11.12.2015, neurologia)" (in suomi). Retrieved 3 November 2016.
- ↑
- ↑ 3.0 3.1 Viljakainen, Veera. "Perinnöllistä Late-Onset Spinal Motor Neuronopathy –motoneuronitautia aiheuttavan CHCHD10-geenin sekvensointi". www.theseus.fi (in suomi). Retrieved 3 November 2016.
- ↑ 4.0 4.1 "Neurologi kuvasi uuden taudin - erityisen yleinen Pohjois-Karjalassa" (in suomi). Retrieved 3 November 2016.
Further reading[edit | edit source]
External links[edit | edit source]
| Classification |
|---|
 | This genetic disorder article is a stub. You can help WikiMD by expanding it. |
 | This Finland-related article is a stub. You can help WikiMD by expanding it. |
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro / Zepbound) available.
Advertise on WikiMD
|
WikiMD's Wellness Encyclopedia |
| Let Food Be Thy Medicine Medicine Thy Food - Hippocrates |
Translate this page: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
தமிழ்,
తెలుగు,
Urdu,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
বাংলা
European
español,
Deutsch,
français,
Greek,
português do Brasil,
polski,
română,
русский,
Nederlands,
norsk,
svenska,
suomi,
Italian
Middle Eastern & African
عربى,
Turkish,
Persian,
Hebrew,
Afrikaans,
isiZulu,
Kiswahili,
Other
Bulgarian,
Hungarian,
Czech,
Swedish,
മലയാളം,
मराठी,
ਪੰਜਾਬੀ,
ગુજરાતી,
Portuguese,
Ukrainian
WikiMD is not a substitute for professional medical advice. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.
Contributors: Prab R. Tumpati, MD
