Scapuloperoneal Spinal Muscular Atrophy; Spsma

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 Scapuloperoneal Spinal Muscular Atrophy; Spsma

TRPV4

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Scapuloperoneal Spinal Muscular Atrophy; Spsma

Scoliosis
Muscle weakness
Motor delay
Peripheral neuropathy
Skeletal muscle atrophy
Talipes equinovarus
Respiratory insufficiency
Kyphosis
Clinodactyly
Areflexia

And another 36 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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

Scapuloperoneal Spinal Muscular Atrophy; Spsma Is also known as amyotrophy, neurogenic scapuloperoneal, new england type.

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.

Scapuloperoneal Spinal Muscular Atrophy; Spsma 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 %
TRPV4 DNA Sequencing Test. By Athena Diagnostics Inc (United States). TRPV4 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 155 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3; RCDP3 MITCHELL-RILEY SYNDROME; MTCHRS HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 4; CHNG4 MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES CONOTRUNCAL HEART MALFORMATIONS; CTHM MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S; LGMD2S NEUROPATHY, PAINFUL