Autosomal Recessive Spastic Paraplegia Type 44

Description

Autosomal recessive spastic paraplegia type 44 (SPG44) is a very rare, complex form of hereditary spastic paraplegia characterized by a late-onset, slowly progressive spastic paraplegia associated with mild ataxia and dysarthria, upper extremity involvement (i.e. loss of finger dexterity, dysmetria), and mild cognitive impairment, without the presence of nystagmus. A hypomyelinating leukodystrophy and thin corpus callosum is observed in all cases and psychomotor development is normal or near normal. SPG44 is caused by mutations in the GJC2 gene (1q41-q42) encoding the gap junction gamma-2 protein.

Clinical Features

Top most frequent phenotypes and symptoms related to Autosomal Recessive Spastic Paraplegia Type 44

  • Seizures
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Strabismus
  • Sensorineural hearing impairment
  • Spasticity
  • Cognitive impairment
  • Flexion contracture
  • Hyperreflexia

And another 32 symptoms. If you need more information about this disease we can help you.

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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.

Alternative names

Autosomal Recessive Spastic Paraplegia Type 44 Is also known as spg44.

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.


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Autosomal Recessive Spastic Paraplegia Type 44 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
GJC2 Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

GJC2
Specificity
100 %
Genes
100 %
GJC2 Sequence Analysis (Familial Mutation/Variant Analysis).

By Baylor Miraca Genetics Laboratories (United States).

GJC2
Specificity
100 %
Genes
100 %
GJC2 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

GJC2
Specificity
100 %
Genes
100 %
GJC2 DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

GJC2
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 %
NGS Vascular Disorders Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SOX18, TEK, VEGFC, GLMN, KRIT1, STAMBP, GJC2, ACVRL1, CCM2, CCBE1, ENG, FLT4, FOXC2, GATA2, GDF2, KIF11, SMAD4, PDCD10, PTEN, PTPN14 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Test for Spastic Paraplegia 44.

By Genome Diagnostics Laboratory University Medical Center Utrecht (Netherlands).

GJC2
Specificity
100 %
Genes
100 %
HSPAR panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht (Netherlands).

SACS, SPG11, SPG7, CCT5, PNPLA6, GJC2, SPART, SPG21, ZFYVE26, CYP7B1
Specificity
10 %
Genes
100 %

We have 57 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET MESH Rare Disease Symptoms Checker

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