Should a 28-year-old female with Charcot Marie Tooth (CMT) disease, untreated hypothyroidism, depression, severe left hip pain, and bilateral lower leg weakness be referred to a neurologist or an orthopedic specialist?

Referral Recommendation for CMT Patient with Hip Pain and Leg Weakness

This patient should be referred to a neurologist first, with subsequent orthopedic consultation coordinated through neurology for the hip pain and structural deformities. The combination of untreated hypothyroidism, years without CMT follow-up, and new severe symptoms requires neurological reassessment to distinguish disease progression from treatable comorbidities before addressing orthopedic issues.

Primary Rationale for Neurology Referral

The neurologist must evaluate whether the severe left hip pain and bilateral leg weakness represent CMT disease progression, complications from untreated hypothyroidism, or both. 1, 2 This distinction is critical because:

• Untreated hypothyroidism can independently cause or worsen peripheral neuropathy and muscle weakness, potentially mimicking CMT progression 1
• CMT patients require electrodiagnostic studies to classify current disease status (demyelinating vs. axonal subtypes) and guide management 3, 1, 2
• Depression and hypothyroidism are treatable conditions that may be contributing significantly to her functional decline and must be addressed before attributing all symptoms to CMT progression 1

Why Hip Pain in CMT Requires Neurological Assessment First

Hip dysplasia occurs in 6% of CMT patients, particularly CMT1 subtype, and can appear from age 8 years onward. 4 However:

• The pathophysiology of hip involvement in CMT is paradoxical, presenting with proximal osteoarticular deformations despite being a distal neuropathy, and genetic research is still elucidating mechanisms 4
• Four specific orthopedic abnormalities can occur: acetabular dysplasia, femoral dysplasia, high femoral antetorsion, and eccentric femoral head 4
• A neurologist familiar with CMT can determine if the hip pain represents true structural hip dysplasia versus referred pain from neuromuscular imbalance or spinal cord tethering 3

Critical Diagnostic Workup Needed

The neurologist should perform:

• Comprehensive electrodiagnostic studies to classify current CMT subtype (demyelinating CMT1 vs. axonal CMT2 vs. X-linked CMTX) and assess for progression 3, 1, 2
• Evaluation for spinal cord tethering, which can present with hip/leg pain, progressive weakness, and gait difficulties in patients with underlying neurological conditions 3
• Assessment of the untreated hypothyroidism's contribution to current symptoms, as thyroid dysfunction commonly affects neuromuscular function 1
• Coordination of hip radiographs (pelvis AP view) if clinical examination suggests structural hip pathology 4

When Orthopedic Referral Becomes Appropriate

Orthopedic consultation should occur after neurological assessment establishes the diagnosis and optimizes medical management. 5, 4 Specifically:

• If hip dysplasia is confirmed radiographically with acetabular or femoral abnormalities, orthopedic intervention may be needed to prevent early secondary osteoarthritis 4
• Surgical correction is the only treatment during the symptomatic phase of hip dysplasia in CMT, but timing should be coordinated with neurological status 4
• Bilateral pes cavovarus deformities (the most common foot deformity in CMT) may require orthopedic evaluation for tendon transfers, soft tissue releases, or osteotomies if causing functional impairment 2, 5

Multidisciplinary Coordination

The neurologist should coordinate a multidisciplinary approach that includes:

• Endocrinology consultation for untreated hypothyroidism management 1
• Psychiatry or psychology for depression treatment, which significantly impacts quality of life and rehabilitation participation 1
• Physical medicine and rehabilitation for intensive rehabilitation protocols, which have shown short-term improvement in muscle strength and functioning in mild-to-moderate CMT 6, 7
• Orthopedic surgery once medical optimization is achieved and structural deformities requiring surgical intervention are clearly defined 5, 4

Common Pitfalls to Avoid

• Do not assume all symptoms are from CMT progression without evaluating treatable comorbidities like hypothyroidism and depression 1
• Do not refer directly to orthopedics without neurological assessment, as the hip pain may be neurogenic rather than structural 3, 4
• Do not delay treatment of hypothyroidism, as this may be contributing substantially to weakness and functional decline 1
• Do not overlook the possibility of spinal cord tethering, which can present with hip/leg pain and progressive weakness in patients with underlying neurological conditions 3

Expected Timeline

• Neurology should be seen urgently (within 2-4 weeks) given severe symptoms and years without follow-up 2
• Electrodiagnostic studies should be completed within 4-6 weeks of initial neurology visit 3, 1
• Orthopedic referral should follow within 2-3 months once neurological assessment is complete and medical optimization (thyroid, depression) is underway 4