[Dystonia caused by a mutation in the KMT2B gene]

Area of Science:

• Genetics
• Neurology
• Pediatrics

Background:

• Dystonia-KMT2B (DYT-KMT2B) is a frequent cause of early-onset generalized dystonia in children, potentially representing 10-20% of cases.
• Limited reporting of DYT-KMT2B cases exists in Russia, with only one documented instance previously.

Purpose of the Study:

• To present a clinical case of a pediatric patient with DYT-KMT2B.
• To review existing literature on DYT-KMT2B.
• To emphasize the significance of genetic variant identification and clinical assessment for diagnosis and treatment planning.

Main Methods:

• Clinical case presentation of a 6-year-old girl with DYT-KMT2B.
• Comprehensive literature review on KMT2B-related dystonia.

Main Results:

• The study details the clinical manifestations and genetic findings in a pediatric patient diagnosed with DYT-KMT2B.
• Literature review provides context on the prevalence and clinical spectrum of the condition.

Conclusions:

• Accurate genetic variant determination and thorough clinical evaluation are crucial for identifying DYT-KMT2B.
• This diagnosis guides therapeutic strategies, including pharmacological interventions and neurosurgical options.