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Start free with EleplanAutosomal recessive Charcot-Marie-Tooth disease with hoarseness
ORPHA:101097Disease
Also called ARCMT2K · Autosomal recessive axonal CMT4C4 · Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K
What it is
A severe, early-onset form of axonal CMT peripheral sensorimotor polyneuropathy.
Key facts
- Age of onset
- Infancy, Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Disease
Signs and symptoms
Very common80–99%
15- Axonal loss
- Chronic axonal neuropathy
- Decreased number of small peripheral myelinated nerve fibers
- Distal lower limb muscle weakness
- Distal sensory impairment
- Distal upper limb muscle weakness
- Impaired pain sensation
- Impaired tactile sensation
- Impaired vibratory sensation
- Peripheral axonal degeneration
- Peripheral demyelination
- Proximal muscle weakness in lower limbs
- Proximal muscle weakness in upper limbs
- Sensorimotor neuropathy
- Skeletal muscle atrophy
Common30–79%
19- Abnormality of the vertebral column
- Areflexia
- Clusters of axonal regeneration
- Flexion contracture
- Frequent falls
- Hand muscle weakness
- Hoarse voice
- Impaired distal proprioception
- Impaired tandem gait
- Intrinsic hand muscle atrophy
- Loss of ambulation
- Peroneal muscle weakness
- Pes cavus
- Quadriceps muscle weakness
- Reduced tendon reflexes
- Split hand
- Talipes equinovarus
- Unsteady gait
- Vocal cord paresis
These 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.
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