Confirm a hereditary neuropathy phenotype before broad genetic testing
CMT can cause slowly progressive distal weakness and muscle wasting, sensory loss, reduced reflexes and characteristic foot deformity, but similar findings can occur in acquired neuropathies. Charité's dedicated CMT/HMSN service combines detailed phenotyping with electrophysiology and human genetics rather than treating a genetic panel as a stand-alone diagnosis.
- Age at symptom onset and rate of progression
- Distal leg and hand weakness or muscle wasting
- Pes cavus, hammer or claw toes and ankle instability
- Sensory loss, neuropathic pain and reflex changes
- Three-generation family history when possible
- Previous diagnoses such as CIDP that may need re-evaluation
Nerve-conduction studies help classify the neuropathy
Electrophysiology can help distinguish predominantly demyelinating and axonal inherited neuropathy patterns and guide the genetic strategy. Charité describes demyelinating CMT1, axonal CMT2 and X-linked forms among the clinically relevant CMT spectrum, while Heidelberg provides comprehensive ENG/EMG testing within its certified neuromuscular service.
- Motor and sensory nerve-conduction studies
- EMG when needed to characterize chronic denervation or an atypical pattern
- Comparison with older studies to document progression
- Assessment for marked asymmetry, conduction block or other features that may suggest an acquired process
Genetic testing should follow the phenotype and electrophysiology
There is no single universal CMT test. Freiburg's current human-genetics request form separates PMP22 copy-number testing from broader demyelinating CMT1 and axonal CMT2 gene panels. The exact sequence should be selected by a genetics or neuromuscular team based on the inheritance pattern, electrophysiology and clinical phenotype.
- Genetic counseling before and after testing when appropriate
- PMP22 duplication/deletion testing when the phenotype is compatible
- Targeted or panel testing for demyelinating, axonal or X-linked CMT when indicated
- Review of variants of uncertain significance in clinical context
- Testing of relatives only with appropriate counseling and a clear clinical question
CMT and CIDP require different treatment logic
Some inherited neuropathies can initially be mistaken for acquired demyelinating disease. A stable lifelong pattern, family history and genetic confirmation can prevent unnecessary long-term immunotherapy. IVIG, corticosteroids and plasma exchange are not standard treatments for genetically confirmed CMT. If the course is unusually rapid or electrophysiology suggests superimposed inflammation, the specialist team may separately investigate an acquired immune neuropathy.
Physiotherapy, occupational therapy and assistive devices are core care
Charité describes long-term CMT management as predominantly complex supportive care, including physiotherapy, occupational therapy, rehabilitation and assistive devices. The goal is to preserve mobility and independence, reduce falls and contractures and adapt treatment as weakness progresses.
- Strength, stretching and balance work tailored to the individual
- Gait assessment and fall prevention
- Ankle-foot orthoses when foot drop or ankle instability affects walking
- Hand-function and occupational-therapy assessment
- Walking aids or other mobility devices when needed
- Energy-conservation and work/home adaptations
Foot and ankle deformity may require orthopedic review
Pes cavus, claw toes and ankle instability can become major drivers of pain and disability. Charité specifically works with orthopedics in its CMT pathway. Orthopedic surgery is not automatic: the decision depends on deformity, flexibility, pain, gait impairment, muscle balance and response to conservative treatment such as orthotics and physiotherapy.
Treat pain and other complications without assuming they are all caused by CMT
Neuropathic pain, musculoskeletal pain, entrapment neuropathies and overuse can coexist. A specialist review should identify the pain mechanism before treatment. Selected CMT subtypes can also have additional features outside the typical length-dependent neuropathy, so atypical respiratory, hearing or other systemic findings should trigger subtype-specific assessment rather than generic CMT management.
Clinical trials are not established CMT treatment
Charité participates in CMT research, natural-history work, registries and clinical studies. These programs can be valuable for eligible patients but should not be presented as proof that an experimental drug, gene therapy or molecular intervention is an established cure. Ask whether a proposed therapy is approved routine care, compassionate use or a formal clinical trial.
What to send for a German CMT second opinion
A useful record package should show the inherited-neuropathy phenotype and what genetic work has already been completed.
- Neurology or neuromuscular-clinic reports
- All nerve-conduction and EMG reports
- Existing genetic reports including full variant notation
- Family history or pedigree if available
- Photos or orthopedic reports documenting foot/ankle deformity when relevant
- Current orthotics, mobility aids and rehabilitation plan
- Pain and functional limitations that most affect daily life
- A specific question: confirm CMT, refine subtype, review genetics, optimize rehabilitation or assess orthopedic options
Official sources
Sources last checked 2026-09-01. Clinical pathways, eligibility and hospital procedures can change; confirm current requirements directly with the treating center.
- Neuromuscular diseases – CMT/HMSN clinic and research program — Charité – Universitätsmedizin Berlin ↗
- CMT/HMSN specialist outpatient clinic — Charité – Universitätsmedizin Berlin ↗
- Neuromuscular outpatient clinic — Heidelberg University Hospital ↗
- Human genetics test request form – CMT1/CMT2/HNPP — University Medical Center Freiburg ↗