Charcot-marie-tooth Disease Type 4d
Description
Charcot-Marie-Tooth disease type 4D (CMT4D) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by a childhood-onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy, sensorineural hearing impairment leading to deafness (usually in third decade), severely reduced nerve conduction velocities, and skeletal, especially foot, deformities. Tongue atrophy has also been reported.
Clinical Features
Top most frequent phenotypes and symptoms related to Charcot-marie-tooth Disease Type 4d
- Hearing impairment
- Sensorineural hearing impairment
- Muscle weakness
- Motor delay
- Peripheral neuropathy
- Skeletal muscle atrophy
- Gait disturbance
- Talipes equinovarus
- Areflexia
- Hyporeflexia
And another 27 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Alternative names
Charcot-marie-tooth Disease Type 4d Is also known as hmsnl, charcot-marie-tooth disease, demyelinating, autosomal recessive, type 4d, hmsn, lom type, neuropathy, hereditary motor and sensory, lom type, hmsn-lom, hereditary motor and sensory neuropathy, lom type, cmt4d, hmsn4d, charcot-marie-tooth neuropathy, type 4.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.
Accelerate your rare disease diagnosis with us
Charcot-marie-tooth Disease Type 4d Recommended genes panels
| Panel Name, Specifity and genes Tested/covered |
|---|
 CMT Advanced Evaluation - Recessive, Demyelinating.
By Athena Diagnostics Inc (United States).
PRX, GDAP1, FIG4, FGD4, SBF2, SH3TC2, MTMR2, NDRG1
Specificity
13 %
Genes
100 % |
|
NDRG1 DNA Sequencing Test.
By Athena Diagnostics Inc (United States).
NDRG1
Specificity
100 %
Genes
100 % |
|
CMT Advanced Evaluation - Comprehensive.
By Athena Diagnostics Inc (United States).
YARS, PRX, GDAP1, LITAF, FIG4, MFN2, TRPV4, FGD4, SBF2, SH3TC2, DNM2, HSPB8, EGR2, GARS, GJB1, HSPB1, LMNA, MPZ, MTMR2, NDRG1 , (...)
View the complete list with 3 more genes
Specificity
5 %
Genes
100 % |
|
CMT Advanced Evaluation - Demyelinating.
By Athena Diagnostics Inc (United States).
YARS, PRX, GDAP1, LITAF, FIG4, FGD4, SBF2, SH3TC2, DNM2, EGR2, GJB1, MPZ, MTMR2, NDRG1, PMP22
Specificity
7 %
Genes
100 % |
|
CMT Advanced Evaluation - Recessive.
By Athena Diagnostics Inc (United States).
PRX, GDAP1, FIG4, FGD4, SBF2, SH3TC2, LMNA, MTMR2, NDRG1
Specificity
12 %
Genes
100 % |
|
CMT Advanced Evaluation - Nonprevalent.
By Athena Diagnostics Inc (United States).
YARS, PRX, GDAP1, LITAF, FIG4, TRPV4, FGD4, SBF2, SH3TC2, DNM2, HSPB8, EGR2, GARS, GJB1, HSPB1, LMNA, MTMR2, NDRG1, NEFL, PMP22 , (...)
View the complete list with 1 more genes
Specificity
5 %
Genes
100 % |
|
CMT Advanced Evaluation - Nonprevalent Demyelinating.
By Athena Diagnostics Inc (United States).
YARS, PRX, GDAP1, LITAF, FIG4, FGD4, SBF2, SH3TC2, DNM2, EGR2, GJB1, MTMR2, NDRG1, PMP22
Specificity
8 %
Genes
100 % |
|
Charcot-Marie-Tooth Hereditary Neuropathy Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
SBF1, SLC12A6, SPG11, SURF1, TFG, VCP, YARS, PRX, BSCL2, GDAP1, TRIM2, KIF1B, LITAF, FIG4, MFN2, TRPV4, FGD4, AARS, GNB4, SBF2 , (...)
View the complete list with 34 more genes
Specificity
2 %
Genes
100 % |
Sources and references
You can check the following sources for additional information.
MESH ORPHANET OMIM Genetic Syndrome FinderIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PORTAL HYPERTENSION, NONCIRRHOTIC; NCPH MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME; MPSPS NARCOLEPSY-CATAPLEXY SYNDROME
Need help with a diagnosis?
Learn more about how to achieve it with Mendelian
