What is the management plan for Gordon syndrome?

Management of Gordon Syndrome

The management of Gordon syndrome requires a multidisciplinary approach focusing on physical rehabilitation, pain management, and addressing specific complications such as contractures, cleft palate, and short stature.

Physical Rehabilitation

• Comprehensive rehabilitation program is essential and should be arranged with a rehabilitation specialist, physiotherapist, and occupational therapist 1
• Physical therapy assessment should guide the following interventions:
  • Range-of-motion exercises
  • Strength training
  • Adaptive equipment including:
    • Orthotic intervention
    • Hand splints
    • Mobility devices
    • Driving modifications
    • Devices for transfers, activities of daily living, work, and school participation 1

Neuromuscular Management

• Neuromuscular consultation at time of diagnosis with follow-up as symptoms change 1
• Regular assessment for:
  • Treatable causes of hand weakness (e.g., carpal tunnel syndrome)
  • Characterization of peripheral neuropathy
  • Evaluation for contributing factors unrelated to Gordon syndrome 1
• EMG/nerve conduction studies should be repeated if signs of polyneuropathy or intrinsic hand muscle weakness develop 1

Pain Management

• For neuropathic pain:
  • First-line: Gabapentinoids (pregabalin, gabapentin)
  • Second-line: Tricyclic antidepressants or carbamazepine
  • Avoid opioids when possible 2
• Encourage mobilization to reduce muscle pain and arthralgia 1

Surgical Considerations

• Orthopedic consultation as needed for management of contractures 1
• During surgery/anesthesia:
  • Avoid agents such as succinylcholine in patients with myopathy due to risk of rhabdomyolysis
  • Increased sensitivity to nondepolarizing agents may occur
  • Careful perioperative monitoring for respiratory and metabolic complications 1
  • Be aware that malignant hyperthermia has been reported in a patient with Gordon syndrome 3

Genetic Counseling

• Offer genetic counseling to all parents with a child with Gordon syndrome and to all adults with the condition 1
• Gordon syndrome is associated with mutations in PIEZO2 gene in most cases (83%) 4
• Determine the proband's mutations when feasible 1
• For prenatal diagnosis, molecular testing is the preferred method when both mutations are known 1

Special Considerations

• Monitor for short stature, which is a common feature of Gordon syndrome 5, 6
• Address cleft palate/bifid uvula through appropriate specialist referral 5, 3
• Assess for intellectual disability and delay in psychomotor development, which may be part of the phenotypic spectrum 5
• For patients with CUL3 mutations (pseudohypoaldosteronism type II variant):
  • Monitor for hypertension, hyperkalemia, and metabolic acidosis
  • Treatment with thiazide diuretics and low salt diet can normalize blood pressure and serum electrolytes 6, 7

Psychological Support

• Early recognition and management of psychological distress is important
• Referral to a psychologist or psychiatrist might be beneficial for some patients
• Connect patients with others who have similar conditions to help guide them through the rehabilitation process 1

Follow-up Care

• Regular monitoring of physical function, pain levels, and psychological well-being
• Adaptive equipment needs should be reassessed as the patient grows or as their condition changes
• Coordinate care between specialists including geneticists, neurologists, orthopedic surgeons, and rehabilitation specialists

Gordon syndrome management requires ongoing, coordinated care addressing both the physical manifestations and potential psychological impacts of this rare genetic disorder.