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Start free with EleplanCharcot-Marie-Tooth disease type 1F
ORPHA:101085Disease
Also called CMT1F
What it is
Charcot-Marie-Tooth disease type 1F (CMT1F) is a form of CMT1, with a variable clinical presentation that can range from severe impairment with onset in childhood to mild impairment appearing during adulthood. CMT1F is characterized by a progressive peripheral motor and sensory neuropathy with distal paresis in the lower limbs that varies from mild weakness to complete paralysis of the distal muscle groups, absent tendon reflexes and reduced nerve conduction. CMT1F represents the ''demyelinating'' form of CMT2E and is caused by mutations in the NEFL gene (8p21.2).
Key facts
- Age of onset
- Childhood, Infancy
- Inheritance
- Autosomal dominant
- Classified as
- Disease
Recorded for the broader condition
- Prevalence
- 1-5 / 10 000Charcot-Marie-Tooth disease type 1
Orphanet records these for the broader condition rather than for this specific form. They are a starting point, not a figure for this subtype — subtypes often differ, and some are defined by being rarer than the condition they sit under.
Signs and symptoms
Very common80–99%
7Common30–79%
24- Abnormality of the hand
- Absent brainstem auditory responses
- Areflexia
- Cervical spinal cord atrophy
- Decreased number of large peripheral myelinated nerve fibers
- Distal lower limb amyotrophy
- Distal lower limb muscle weakness
- Distal upper limb amyotrophy
- Foot dorsiflexor weakness
- Gait ataxia
- Hand muscle atrophy
- Hand muscle weakness
- Hand tremor
- Head tremor
- Impaired pain sensation
- Impaired proprioception
- Impaired vibratory sensation
- Limb ataxia
- Mixed demyelinating and axonal polyneuropathy
- Motor delay
- Pes cavus
- Positive Romberg sign
- Steppage gait
- Unsteady gait
Sometimes5–29%
18- Cognitive impairment
- Dysarthria
- Fasciculations
- Flexion contracture of finger
- Hypotonia
- Muscle spasm
- Optic nerve hypoplasia
- Paresthesia
and 10 more in this range
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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