Amyotrophic Lateral Sclerosis 5, Juvenile; Als5

Table of contents:

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

Description

Autosomal recessive juvenile amyotrophic lateral sclerosis-5 is a neurodegenerative disorder characterized by onset of upper and lower motor neuron signs before age 25. Affected individuals have progressive spasticity of limb and facial muscles associated with distal amyotrophy. The disorder is slowly progressive, with cases of prolonged survival of more than 3 decades (summary by Orlacchio et al., 2010).For a phenotypic description and a discussion of genetic heterogeneity of amyotrophic lateral sclerosis (ALS), see ALS1 (OMIM ).

Genes related to Amyotrophic Lateral Sclerosis 5, Juvenile; Als5

SPG11

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Clinical Features

Top most frequent phenotypes and symptoms related to Amyotrophic Lateral Sclerosis 5, Juvenile; Als5

Muscle weakness
Spasticity
Cognitive impairment
Hyperreflexia
Dysarthria
Skeletal muscle atrophy
Hypoplasia of the corpus callosum
Babinski sign
Difficulty walking
Distal muscle weakness

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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.

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.

Amyotrophic Lateral Sclerosis 5, Juvenile; Als5 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
SPG11 (Spatacsin) DNA Sequencing Test. By Athena Diagnostics Inc (United States). SPG11 Specificity 100 % Genes 100 %
HSP, Comprehensive Evaluation. By Athena Diagnostics Inc (United States). RTN2, SACS, SPG11, ATL1, SPAST, SPG7, BSCL2, PNPLA6, NIPA1, SPART, SPG21, ZFYVE26, FA2H, AP5Z1, REEP1, CYP7B1, WASHC5, ALS2, HSPD1, KIF5A , (...) View the complete list with 4 more genes Panel complete gene list RTN2, SACS, SPG11, ATL1, SPAST, SPG7, BSCL2, PNPLA6, NIPA1, SPART, SPG21, ZFYVE26, FA2H, AP5Z1, REEP1, CYP7B1, WASHC5, ALS2, HSPD1, KIF5A, L1CAM, KIF1A, PLP1, SLC33A1 Specificity 5 % Genes 100 %
HSP, Supplemental Sporadic Evaluation. By Athena Diagnostics Inc (United States). RTN2, SACS, SPG11, ATL1, BSCL2, PNPLA6, NIPA1, SPART, SPG21, ZFYVE26, FA2H, AP5Z1, REEP1, CYP7B1, WASHC5, ALS2, HSPD1, KIF5A, L1CAM, KIF1A , (...) View the complete list with 2 more genes Panel complete gene list RTN2, SACS, SPG11, ATL1, BSCL2, PNPLA6, NIPA1, SPART, SPG21, ZFYVE26, FA2H, AP5Z1, REEP1, CYP7B1, WASHC5, ALS2, HSPD1, KIF5A, L1CAM, KIF1A, PLP1, SLC33A1 Specificity 5 % Genes 100 %
HSP, Complete Recessive Evaluation. By Athena Diagnostics Inc (United States). SACS, SPG11, SPG7, PNPLA6, SPART, SPG21, ZFYVE26, FA2H, AP5Z1, CYP7B1, ALS2, KIF1A Specificity 9 % Genes 100 %
HSP, Common Recessive Evaluation. By Athena Diagnostics Inc (United States). SPG11, SPG7, ZFYVE26 Specificity 34 % 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 Panel complete gene list SBF1, SLC12A6, SPG11, SURF1, TFG, VCP, YARS, PRX, BSCL2, GDAP1, TRIM2, KIF1B, LITAF, FIG4, MFN2, TRPV4, FGD4, AARS, GNB4, SBF2, COX6A1, DHTKD1, MORC2, INF2, LRSAM1, MED25, PLEKHG5, SH3TC2, DYNC1H1, DNM2, HSPB8, EGR2, GAN, GARS, GJB1, HARS, HINT1, DNAJB2, HSPB1, IGHMBP2, KARS, LMNA, MARS, MME, MPZ, MTMR2, NDRG1, NEFH, NEFL, AIFM1, PDK3, PMP22, PRPS1, RAB7A Specificity 2 % Genes 100 %
Hereditary Spastic Paraplegia Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). RTN2, SACS, SLC16A2, SLC2A1, KDM5C, SPG11, ATL1, SPAST, SPG7, TFG, ACOX1, TREX1, UCHL1, VAMP1, ERLIN2, CAPN1, BSCL2, SAMHD1, PNPLA6, ERLIN1 , (...) View the complete list with 59 more genes Panel complete gene list RTN2, SACS, SLC16A2, SLC2A1, KDM5C, SPG11, ATL1, SPAST, SPG7, TFG, ACOX1, TREX1, UCHL1, VAMP1, ERLIN2, CAPN1, BSCL2, SAMHD1, PNPLA6, ERLIN1, NIPA1, RAB3GAP2, BICD2, GJC2, EXOSC3, REEP2, SPART, CPT1C, IFIH1, GBA2, DDHD1, TECPR2, SPG21, CYP2U1, KLC2, ZFYVE26, TUBB3, TUBB4A, HACE1, FARS2, FA2H, AP5Z1, ADAR, VPS37A, C19orf12, RNASEH2B, PGAP1, REEP1, CYP7B1, ZFYVE27, C12orf65, WDR45, WASHC5, DDHD2, KIDINS220, ATP13A2, ENTPD1, B4GALNT1, ALS2, HSPD1, AP4B1, AP4E1, AP4M1, AP4S1, ABCD1, KIF1C, KIF5A, L1CAM, MAG, MARS, MECP2, NT5C2, OPA3, KIF1A, PLA2G6, PLP1, PQBP1, SLC33A1, ALDH18A1 Specificity 2 % Genes 100 %
Test for Spastic Paraplegia 11. By Genome Diagnostics Laboratory University Medical Center Utrecht (Netherlands). SPG11 Specificity 100 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

OMIM MESH Rare Disease Symptoms Checker

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