Serial casting in CAV3 mutation


Clinical Management

Poster Number: T354


Kayla Clem, PT, DPT, ATP, Neurology and Neuromuscular Care Center

A patient presents to clinic with toe walking, elevated CK levels, and pathogenic CAV3 gene mutation. The CAV3 gene is associated with a spectrum of neuromuscular conditions, including AD hyperemia, distal myopathy, autosomal dominant or recessive limb girdle muscular dystrophy type 1C, and rippling muscle disease, collectively known as the caveolinopathies. This patient most closely resembles the phenotype AD LGMD1C. This patient had an increase in falls related to full time toe walking and plantarflexion contractures of 40 degrees on the left and 45 degrees on the right. Due to this, plans of care were discussed between surgery and serial casting. To begin with the more conservative route, serial casting was trialed two times per week for 6 weeks. This patient initially had some difficulties transitioning into cast wear but ultimately good progress was achieved through 13 casts. The patient’s dorsiflexion range of motion improves to from -40 to +10 degrees on the left and -45 to +5 degrees on the right. From here, this patient began 3 months of weekly physical therapy appointments to work on strength, maintaining ROM, balance, and age appropriate gross motor skills. Nine months post casting, this patient’s range of motion has stayed consistent, and he has reached all age appropriate milestones. This case study provides a good example of using serial casting to treat those with severe contractures and those with an underlying muscular dystrophy.