Autosomal Recessive Spastic Paraplegia Type 77
Description
Autosomal recessive spastic paraplegia type 77 is a rare, pure or complex hereditary spastic paraplegia characterized by an infancy to childhood onset of slowly progressive lower limb spasticity, delayed motor milestones, gait disturbances, hyperreflexia and various muscle abnormalities, including weakness, hypotonia, intention tremor and amyotrophy. Ocular abnormalities (e.g. strabismus, ptosis) and other neurological abnormalities, such as dysarthria, seizures and extensor plantar responses, may also be associated.
Clinical Features
Top most frequent phenotypes and symptoms related to Autosomal Recessive Spastic Paraplegia Type 77
- Seizures
- Global developmental delay
- Generalized hypotonia
- Scoliosis
- Ataxia
- Strabismus
- Spasticity
- Ptosis
- Hyperreflexia
- Dysarthria
And another 23 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
Autosomal Recessive Spastic Paraplegia Type 77 Is also known as spg77.
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.Autosomal Recessive Spastic Paraplegia Type 77 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
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FARS2 Comprehensive - Sequence & Deletion/Duplication Analysis.
By Baylor Miraca Genetics Laboratories (United States).
FARS2
Specificity
100 %
Genes
100 % |
FARS2 Deletion/Duplication Analysis.
By Baylor Miraca Genetics Laboratories (United States).
FARS2
Specificity
100 %
Genes
100 % |
FARS2 Sequence Analysis.
By Baylor Miraca Genetics Laboratories (United States).
FARS2
Specificity
100 %
Genes
100 % |
FARS2 Sequence Analysis (Prenatal Diagnosis).
By Baylor Miraca Genetics Laboratories (United States).
FARS2
Specificity
100 %
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
Specificity
2 %
Genes
100 % |
Comprehensive Mitochondrial Metabolic Panel.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).
BCS1L, SCO1, SCO2, SDHB, SDHC, SDHD, SLC22A5, SLC25A13, SLC25A15, SLC25A3, SLC25A4, BTD, SUCLA2, SUCLG1, SURF1, TAZ, TWNK, TCN2, TFAM, TIMM8A , (...)
View the complete list with 173 more genes
Specificity
1 %
Genes
100 % |
Hereditary Spastic Paraplegia Exome Panel.
By Genetic Services Laboratory University of Chicago (United States).
RTN2, SACS, SLC16A2, SLC2A1, KDM5C, SPG11, ATL1, SPAST, SPG7, VAMP1, ERLIN2, CAPN1, BSCL2, PNPLA6, ERLIN1, NIPA1, GJC2, EXOSC3, SPART, CPT1C , (...)
View the complete list with 36 more genes
Specificity
2 %
Genes
100 % |
Ataxia Exome Panel.
By Genetic Services Laboratory University of Chicago (United States).
BCS1L, RTN2, SACS, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SDHD, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC20A2, SLC2A1, SLC6A1, SLC9A1, SLC9A6, SNAP25, SOD1 , (...)
View the complete list with 457 more genes
Specificity
1 %
Genes
100 % |
You can get up to 29 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
OMIM ORPHANET Genetic Syndrome FinderIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like IMMUNODEFICIENCY 31B; IMD31B ALEXANDER DISEASE; ALXDRD DUCHENNE MUSCULAR DYSTROPHY CHROMOSOME 17q23.1-q23.2 DUPLICATION SYNDROME