Table 5.

Treatment of Manifestations in Individuals with Diastrophic Dysplasia

Manifestation/
Concern		TreatmentConsiderations/Other
Cervical
kyphosis 		Cervical spine surgery in infancy may be limited to those w/clinical or neurophysiologic evidence of spinal cord impingement.The rate of spontaneous correction is rather high.
Contractures
  • PT may prevent early joint contractures.
  • In children, maintain joint positioning/ mobility as much as possible by physical means (PT & casting, e.g., for clubfeet)
Tightness of joint capsules & ligaments makes correction by casting or other physical means difficult.
Clubfoot Surgical correction is indicated when foot deformity makes ambulation impossible.
  • Undertake surgery w/caution, as deformities tend to recur.
  • Simple tenotomy does not suffice, & more extensive plasty of tarsal bones may be needed [Weiner et al 2008].
Scoliosis Treatment per orthopedic specialist 1
  • Postpubertal surgical correction is best in most cases [Jalanko et al 2009].
  • Surgery before puberty may be helpful for those w/severe spinal deformity → respiratory compromise or neurologic signs.
Premature
degenerative
arthrosis 		ArthroplastyTotal arthroplasty of hips & knees ↓ pain & ↑ mobility in a group of adult Finnish persons [Helenius et al 2003a, Helenius et al 2003b]. The authors concluded that arthroplasty is indicated in "relatively young adults" w/DTD.
Cystic ear
swelling 		Conservative approach Cushing et al [2011]

DTD = diastrophic dysplasia; PT = physical therapy

1.

Indications for surgical correction of have not been established, nor have criteria to define a successful surgical outcome [Matsuyama et al 1999, Remes et al 2001]. It should be noted that surgical series are inevitably biased toward more severely affected individuals. The key issue seems to be the early identification of those individuals at risk for rapid increase in scoliotic curvature.

From: Diastrophic Dysplasia

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