VIDEO ROUNDS 🎥: @rakkel622 presented a case of severe segmental dystonia (neck, face, voice) with onset at 50 y.o., progressive for last 15 years. We don't have genetic testing yet!
What is the approach to diagnosing adult-onset segmental dystonia?👩🔧
What is the approach to diagnosing adult-onset segmental dystonia?👩🔧
1/ 7 genes can cause isolated dystonia and should be considered in cases of isolated or segmental dystonia: TOR1A, THAP1, GNAL, ANO3, PRKRA, KMT2B, and HPCA.
The onset site can be helpful, but each of them can present with unusual onset sites.
The onset site can be helpful, but each of them can present with unusual onset sites.
2/
➡️Onset in the neck👔: consider DYT-GNAL, ANO3, or THAP1.
➡️Onset in the lower limb🦵: consider KMT2B or TOR1A.
➡️Onset in the upper limb🤳: consider THAP1, PRKRA, or ANO3.
doi.org
➡️Onset in the neck👔: consider DYT-GNAL, ANO3, or THAP1.
➡️Onset in the lower limb🦵: consider KMT2B or TOR1A.
➡️Onset in the upper limb🤳: consider THAP1, PRKRA, or ANO3.
doi.org
3/ Meige syndrome, blepharospasm, and oromandibular dystonia have been linked to THAP1, TOR1A, GNAL, REEP4, and TOR2A.
doi.org
doi.org
4/ Other Sx can be helpful.💡
➡️Myoclonus + segmental dystonia = suspicion of DYT-ANO3
➡️KMT2B can have many Sx, including develop disorders, short stature & microcephaly. Phenotype is broad. Onset in childhood, but can also present in adulthood. bit.ly
➡️Myoclonus + segmental dystonia = suspicion of DYT-ANO3
➡️KMT2B can have many Sx, including develop disorders, short stature & microcephaly. Phenotype is broad. Onset in childhood, but can also present in adulthood. bit.ly
5/ Great review to read more about isolated dystonia or segmental dystonia.
"Genotype–Phenotype Relations for Isolated Dystonia Genes: MDSGene Systematic Review." doi.org
"Genotype–Phenotype Relations for Isolated Dystonia Genes: MDSGene Systematic Review." doi.org
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