Table 5.

Treatment of Manifestations in Individuals with TNXB-Related Classical-Like Ehlers-Danlos Syndrome

Manifestation/ConcernTreatmentConsiderations/Other
Hypotonia / Gross
motor delay 		Standard treatment by PTNon-weight-bearing muscular exercise, such as swimming, is useful to promote muscular development & coordination.
Joint laxity/
dislocations 		For recommendations on treatment, see Hypermobile EDS.Surgical stabilization of joints may lead to minimal or only temporary improvement.
Joint pain
  • Non-weight-bearing exercise
  • For recommendations on pain medication, see Hypermobile EDS.
  • Careful selection of analgesic medication is recommended in light of ↑ risks of diverticulitis & diverticular bleeding in users of aspirin or NSAIDs.
  • Consider referral to rheumatologist &/or pain mgmt specialist or clinic.
  • Avoid use of opioid medication for chronic pain; it does not relieve pain long term & can → addiction.
  • Long-term chronic pain may → need for mental health services.
Subjective muscle
weakness 		Standard eval & treatment per neurologist
Vessel/organ rupture Prompt assessment & mgmt in tertiary care center
Cardiac/valvular
abnormalities 		Standard treatment per cardiologist
Easy bruising Ascorbic acid (vitamin C) may ↓ easy bruising but has no effect on primary findings of skin hyperextensibility or joint hypermobility.In general, a dose of 2 g/day is recommended for adults, w/proportionally ↓ doses for children; however, there is no limitation.
DDAVP® may be useful to normalize bleeding time.May be beneficial in case of bruising or epistaxis, or before procedures such as dental extractions
See also Classic EDS.

EDS = Ehlers-Danlos syndrome; NSAID = nonsteroidal anti-inflammatory drug

From: TNXB-Related Classical-Like Ehlers-Danlos Syndrome

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