Q66.8
Conditions
Interventions
Group 1: This retrospective observational study investigates the association between heterozygous PYGM gene variants linked to McArdle disease (glycogen storage disease type V) and persistent toe walk
Sponsors
Pomarino. Praxis für Ganganomalien
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: Zehenspitzengang mehr als die Hälfte des Tages Absolvieren eines spezifischen Gentests mit einem Panel von 49 Genen
Exclusion criteria
Exclusion criteria: Prescence of neurological/orthopedic conditions, such as cerebral palsy, autism spectrum disorder, tethered cord syndrome, children with birth complications, severe orthopedic deformities including limb length discrepancies, scoliosis or severe foot deformities.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Identification of heterozygous PYGM gene variants (pathogenic, likely pathogenic, and VUS) in children with persistent toe walking without neurological/orthopedic comorbidities | — |
Secondary
| Measure | Time frame |
|---|---|
| -Prevalence of clinical features associated with PYGM variants: - Pes cavus: 93% - Muscle pain: 33.8% - Muscle fatigue: 33.8% - Muscle cramps: 35.2% -Phenotypic frequency differences between: - Pathogenic/likely pathogenic (P/LP) variant carriers - Variants of uncertain significance (VUS) carriers -Frequency of McArdle disease-associated symptoms in heterozygous carriers -Potential genotype-phenotype correlations in PYGM heterozygotes | — |
Countries
Germany
Contacts
Public ContactDavid Pomarino
Pomarino. Praxis für Ganganomalien
Outcome results
None listed