Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain

Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain (also called DI-CMT with neuropathic pain) is a rare inherited nerve disorder that affects both the motor and sensory nerves in the arms and legs. It belongs to the broader family of Charcot-Marie-Tooth (CMT) diseases, which are among the most common inherited neurological conditions. The term 'intermediate' means that nerve conduction studies show features that fall between the two classic CMT types — the demyelinating form (CMT1) and the axonal form (CMT2). What makes this particular subtype stand out is the prominent neuropathic pain, which is burning, shooting, or tingling pain caused by nerve damage itself, rather than by an injury. People with this condition typically develop progressive muscle weakness and wasting, especially in the feet, lower legs, and hands. They may notice difficulty walking, frequent tripping, foot deformities such as high arches or hammertoes, and reduced sensation in the extremities. The neuropathic pain component can be especially debilitating and may significantly affect quality of life. The disease is caused by a change in a specific gene passed down from one affected parent, meaning each child of an affected person has a 50% chance of inheriting the condition. There is currently no cure for this form of CMT. Treatment focuses on managing symptoms, including pain control with medications for neuropathic pain, physical therapy to maintain strength and flexibility, occupational therapy for hand function, and orthopedic devices such as braces or custom shoes. In some cases, surgery may be needed to correct foot deformities. Research into disease-modifying therapies is ongoing.

Bring these to your next appointment

• Q1.What specific gene mutation is causing my condition, and what does that mean for my family members?,What are the best options for managing my neuropathic pain?,How quickly is this condition likely to progress in my case?,Should my children or other family members be tested?,What physical therapy exercises are most helpful for maintaining my strength and balance?,Are there any clinical trials I might be eligible for?,When should I consider using braces, orthotics, or other assistive devices?

Common questions about Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain