Caring for someone with this diagnosis? Eleplan keeps diagnoses, medications, documents and every specialist in one plan.
Start free with EleplanCharcot-Marie-Tooth disease type 2B1
ORPHA:98856Disease
Also called AR-CMT2B1 · Autosomal recessive Charcot-Marie-Tooth disease type 2B1 · Autosomal recessive axonal CMT4C1
What it is
Charcot-Marie-Tooth disease, type 2B1 (CMT2B1, also referred to as CMT4C1) is an axonal CMT peripheral sensorimotor polyneuropathy.
Key facts
- Age of onset
- Childhood
- Inheritance
- Autosomal recessive
- Classified as
- Disease
Signs and symptoms
Very common80–99%
9Common30–79%
17- Abnormal foot morphology
- Areflexia
- Decreased number of large peripheral myelinated nerve fibers
- Distal amyotrophy
- Distal muscle weakness
- Distal upper limb amyotrophy
- Distal upper limb muscle weakness
- Hammertoe
- Hand muscle atrophy
- Hand muscle weakness
- Peroneal muscle atrophy
- Pes cavus
- Proximal lower limb amyotrophy
- Proximal muscle weakness
- Proximal muscle weakness in lower limbs
- Steppage gait
- Toe extensor amyotrophy
Sometimes5–29%
5These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
Powered by Eleplan
A rare diagnosis is just the start. Eleplan keeps the whole care plan in one place.
Diagnoses, medications, documents, appointments, and the whole care team — organized and always in sync, so you are not retelling the same story to every new specialist. With Ellie, your AI care assistant, on top of it. Free to start.