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.
And another 27 symptoms. If you need more information about this disease we can help you.
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.
Panel Name, Specifity and genes Tested/covered |
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![]() By Athena Diagnostics Inc (United States).
PRX, GDAP1, FIG4, FGD4, SBF2, SH3TC2, MTMR2, NDRG1
Specificity
13 %
Genes
100 % |
![]() By Athena Diagnostics Inc (United States).
NDRG1
Specificity
100 %
Genes
100 % |
![]() 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 % |
![]() 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 % |
![]() By Athena Diagnostics Inc (United States).
PRX, GDAP1, FIG4, FGD4, SBF2, SH3TC2, LMNA, MTMR2, NDRG1
Specificity
12 %
Genes
100 % |
![]() 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 % |
![]() By Athena Diagnostics Inc (United States).
YARS, PRX, GDAP1, LITAF, FIG4, FGD4, SBF2, SH3TC2, DNM2, EGR2, GJB1, MTMR2, NDRG1, PMP22
Specificity
8 %
Genes
100 % |
![]() 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 % |
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 PORENCEPHALY 2; POREN2 MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME; MPSPS KNOBLOCH SYNDROME 1; KNO1