Evaluate for Hypermobile Ehlers-Danlos Syndrome or Hypermobility Spectrum Disorder
The gait abnormalities described—wide-based stance with bent knees, arm swinging, strong jumping but poor single-leg stability—are classic signs of joint hypermobility and proprioceptive dysfunction that warrant immediate evaluation for hypermobile Ehlers-Danlos syndrome (hEDS) or hypermobility spectrum disorder (HSD), particularly given the concurrent history of severe constipation requiring disimpaction. 1
Why This Gait Pattern Matters
The specific combination of findings is highly suggestive of underlying connective tissue disorder:
- Wide-based gait with bent knees indicates compensatory strategies for joint instability and poor proprioception 1
- Strong jumping ability but difficulty with single-leg stability reflects the paradox of hypermobility: good dynamic power but poor static control due to ligamentous laxity 1
- Arm swinging during gait suggests the patient is using upper body momentum to compensate for lower extremity instability 1
The Critical Connection: GI and Musculoskeletal Manifestations
Severe constipation requiring disimpaction in a patient with hypermobility signs is not coincidental—gastrointestinal dysmotility is a cardinal feature of hEDS/HSD. 1 The 2025 AGA guidelines explicitly recognize that patients with hEDS/HSD commonly present with both autonomic dysfunction affecting GI motility and musculoskeletal manifestations. 1
Immediate Next Steps
1. Clinical Assessment for hEDS/HSD
Perform the Beighton score to quantify joint hypermobility (looking for ≥5/9 points in children, ≥4/9 in adults). 1 Key features to assess include:
- Elbow and knee hyperextension beyond 10 degrees 1
- Thumb to forearm apposition 1
- Fifth finger hyperextension beyond 90 degrees 1
- Forward trunk flexion with palms flat on floor 1
2. Screen for Associated Autonomic Dysfunction
Evaluate for postural orthostatic tachycardia syndrome (POTS), which commonly co-occurs with hEDS/HSD and can worsen both GI symptoms and gait instability. 1 Check orthostatic vital signs: measure heart rate and blood pressure supine, then after 3 minutes of standing. POTS is defined by heart rate increase ≥30 bpm (≥40 bpm in adolescents) without significant blood pressure drop. 1
3. Continue Current Constipation Management
Maintain the current PEG maintenance dose that has successfully kept stool soft and manageable. 2, 3 The constipation is likely related to underlying autonomic dysfunction from hEDS/HSD rather than inadequate laxative therapy. 1
- Continue PEG at current effective dose 2, 3
- Do not add fiber supplements, as these are ineffective and may worsen constipation in patients with motility disorders 2
- Monitor for one non-forced bowel movement every 1-2 days 2, 4
If hEDS/HSD is Confirmed: Comprehensive Management
For Constipation in hEDS/HSD Context
The 2025 AGA guidelines provide specific recommendations for constipation management in hEDS/HSD patients: 1
- Osmotic laxatives: Continue PEG 3350 as first-line 1
- Stimulant laxatives: Add bisacodyl or senna if constipation recurs 1
- Prokinetic agents: Consider prucalopride (5-HT₄ agonist) for refractory cases 1
- Secretagogues: Linaclotide, plecanatide, or lubiprostone may be beneficial 1
For Gait and Stability Issues
Physical therapy focused on proprioceptive training and core strengthening is essential for managing the musculoskeletal manifestations. 1 The wide-based gait and poor single-leg stability will not improve with constipation management alone—they require targeted intervention for joint hypermobility. 1
For POTS (if present)
Lifestyle modifications and medications may be needed: 1
- Increased dietary salt and fluid intake 1
- Compression garments for lower extremities 1
- Graduated exercise program 1
- Consider fludrocortisone, midodrine, or beta-blockers if lifestyle measures insufficient 1
Critical Pitfall to Avoid
Do not attribute the gait abnormalities solely to deconditioning from constipation or assume they will resolve with continued bowel management alone. The specific pattern described is pathognomonic for hypermobility-related proprioceptive dysfunction and requires dedicated evaluation and treatment. 1 Missing this diagnosis delays appropriate multisystem management and allows progression of complications.
Monitoring Timeline
- Assess Beighton score and orthostatic vitals at next visit 1
- Continue current PEG dose and monitor bowel patterns weekly 2, 3
- If hEDS/HSD confirmed, refer to physical therapy for gait training within 2-4 weeks 1
- Consider genetics or rheumatology referral for formal hEDS diagnosis if clinical criteria met 1