1. Mendelian
  2. Rare Diseases
  3. SPASTIC PARAPLEGIA 29, AUTOSOMAL DOMINANT; SPG29

Autosomal Dominant Spastic Paraplegia Type 29

Table of contents:

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.

Genes related to Autosomal Dominant Spastic Paraplegia Type 29

  • SPG29

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Clinical Features

Top most frequent phenotypes and symptoms related to Autosomal Dominant Spastic Paraplegia Type 29

  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Spasticity
  • Hyperreflexia
  • Vomiting
  • Hernia
  • Babinski sign
  • Pes cavus
  • Hyperactivity

And another 18 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available there are 1 families with AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 29 in Europe.
— No data available about the known clinical features onset.

Alternative names

Autosomal Dominant Spastic Paraplegia Type 29 Is also known as spg29.

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.

Sources and references

You can check the following sources for additional information.

OMIM MESH ORPHANET Genetic Syndrome Finder

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