Neuronopathy, Distal Hereditary Motor, Type Iib; Hmn2b

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Genes related to Neuronopathy, Distal Hereditary Motor, Type Iib; Hmn2b

HSPB1

View recommended genes panels

Clinical Features

Phenotypes and symptoms related to Neuronopathy, Distal Hereditary Motor, Type Iib; Hmn2b

Muscle weakness
Peripheral neuropathy
Diabetes mellitus
Difficulty walking
Paralysis
EMG: neuropathic changes
Distal lower limb muscle weakness
Areflexia of lower limbs
Hyporeflexia of lower limbs
Paresis of extensor muscles of the big toe

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

Neuronopathy, Distal Hereditary Motor, Type Iib; Hmn2b Is also known as neuropathy, distal hereditary motor, type iib, dhmn2b, hmn iib.

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.

Neuronopathy, Distal Hereditary Motor, Type Iib; Hmn2b Recommended genes panels

Panel Name, Specifity and genes Tested/covered
CMT Advanced Evaluation - Dominant. By Athena Diagnostics Inc (United States). YARS, LITAF, MFN2, TRPV4, DNM2, HSPB8, EGR2, GARS, HSPB1, MPZ, NEFL, PMP22, RAB7A Specificity 8 % Genes 100 %
CMT Advanced Evaluation - Dominant, Axonal. By Athena Diagnostics Inc (United States). YARS, MFN2, TRPV4, DNM2, HSPB8, GARS, HSPB1, LMNA, MPZ, NEFL, RAB7A Specificity 10 % 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 Panel complete gene list YARS, PRX, GDAP1, LITAF, FIG4, MFN2, TRPV4, FGD4, SBF2, SH3TC2, DNM2, HSPB8, EGR2, GARS, GJB1, HSPB1, LMNA, MPZ, MTMR2, NDRG1, NEFL, PMP22, RAB7A Specificity 5 % Genes 100 %
CMT Advanced Evaluation - Axonal. By Athena Diagnostics Inc (United States). YARS, GDAP1, MFN2, TRPV4, DNM2, HSPB8, GARS, GJB1, HSPB1, LMNA, MPZ, NEFL, RAB7A Specificity 8 % Genes 100 %
HSPB1 (CMT2F) DNA Sequencing Test. By Athena Diagnostics Inc (United States). HSPB1 Specificity 100 % 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 Panel complete gene list YARS, PRX, GDAP1, LITAF, FIG4, TRPV4, FGD4, SBF2, SH3TC2, DNM2, HSPB8, EGR2, GARS, GJB1, HSPB1, LMNA, MTMR2, NDRG1, NEFL, PMP22, RAB7A Specificity 5 % Genes 100 %
Atypical Spinal Muscular Atrophy Advanced Sequencing Evaluation. By Athena Diagnostics Inc (United States). UBA1, VRK1, BICD2, TRPV4, DYNC1H1, HSPB8, GARS, HSPB1, HSPB3, IGHMBP2 Specificity 10 % Genes 100 %
CMT Advanced Evaluation - Nonprevalent Axonal. By Athena Diagnostics Inc (United States). YARS, GDAP1, TRPV4, DNM2, HSPB8, GARS, GJB1, HSPB1, LMNA, NEFL, RAB7A Specificity 10 % Genes 100 %

You can get up to 65 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

MESH OMIM Rare Disease Symptoms Checker

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE; PLSDT IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 5; HIGM5 HOLOPROSENCEPHALY 4; HPE4 ATAXIA-OCULOMOTOR APRAXIA 3; AOA3 COWDEN SYNDROME 1; CWS1 CHOREA, BENIGN FAMILIAL MECKEL SYNDROME, TYPE 10; MKS10