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Start free with EleplanMYH14-related peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
ORPHA:397744Disease
Also called Peripheral neuropathy-myopathy-hoarseness-deafness syndrome
What it is
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome is a rare, syndromic genetic deafness characterized by a combination of muscle weakness, chronic neuropathic and myopathic features, hoarseness and sensorineural hearing loss. A wide range of disease onset and severity has been reported even within the same family.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Childhood
- Inheritance
- Autosomal dominant
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Common30–79%
14- Bilateral sensorineural hearing impairmentDiagnostic criterion
- Decreased nerve conduction velocity
- EMG: myopathic abnormalities
- Fatty replacement of skeletal muscle
- Hoarse voiceDiagnostic criterion
- Hyporeflexia
- Increased variability in muscle fiber diameter
- Lower limb muscle weakness
- Mildly elevated creatine kinase
- Mitochondrial swelling
- MyopathyDiagnostic criterion
- Peripheral neuropathyDiagnostic criterion
- Progressive distal muscle weakness
- Structural foot deformity
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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