SPG29 gene related symptoms and diseases

All the information presented here about the SPG29 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to SPG29 gene

Symptoms // Phenotype % Cases
Seizures Very Common - Between 80% and 100% cases
Impaired vibratory sensation Very Common - Between 80% and 100% cases
Abnormality of the rectum Very Common - Between 80% and 100% cases
Urinary hesitancy Very Common - Between 80% and 100% cases
Kernicterus Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with SPG29 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Nocturia
  • Hyperreflexia in upper limbs
  • Neonatal hyperbilirubinemia
  • Upper limb spasticity
  • Impaired proprioception
  • Hiatus hernia
  • Lower limb hyperreflexia
  • Urinary urgency

And 15 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to SPG29 gene

Here you will find a list of rare diseases related to the SPG29. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 29

Alternate names

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 29 Is also known as spg29

Description

Autosomal dominant spastic paraplegia type 29 (SPG29) is a complex form of hereditary spastic paraplegia characterized by a spastic paraplegia presenting in adolescence, associated with the additional manifestations of sensorial hearing impairment due to auditory neuropathy and persistent vomiting due to a hiatal or paraesophageal hernia.

Most common symptoms of AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 29

  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Spasticity
  • Hyperreflexia


More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 29

SOURCES: OMIM MESH ORPHANET



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