Thomsen syndrome
| Thomsen syndrome, syn. Myotonia congenita, Ataxia muscularis | |
| Clinical picture | Difficulty sucking and stiff facial expressions |
|---|---|
| Cause | autosomal dominantly inherited myotonia syndrome |
| Diagnostics | clinical, laboratory, family history, genetic examination |
| Prognosis | Good, the disease can affect chewing, swallowing or walking |
| Classification and references | |
| ICD-10 | G71.1 |
| MeSH ID | D009224 |
| OMIM | 160800 255700 |
| orphaned | ORPHA206973 |
| MedlinePlus | 001424 |
Thomsen's syndrome (also myotonia congenita or ataxia muscularis) is an autosomal dominantly inherited syndrome of myotonia, manifested already after birth by difficult sucking and stiff facial expressions. After muscle contraction, there is no relaxation, the musculature is significantly hypertrophic (due to repeated muscle contractions) with increased irritability. The sick are not capable of faster movements. On the whole, however, the disease does not cause significant problems for them.
A rarer, autosomal recessively inherited form of congenital myopathy is called Becker disease (OMIM: 255700 ; it is not a form of Becker muscular dystrophy, but a different clinical entity) and is caused by a mutation in the CLCN1 gene.
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External links[edit | edit source]
https://www.akutne.cz/algorithm/cs/321--/
Related Articles[edit | edit source]
References[edit | edit source]
AMBLER, Zdeněk. Základy neurologie : [učebnice pro lékařské fakulty]. 7. edition. Galén, c2011. ISBN 9788072627073.
- VOKURKA, Martin – HUGO, Jan. Velký lékařský slovník. 9. edition. Maxdorf, 2009. 1159 pp. ISBN 978-80-7345-202-5.
