Autosomal Dominant Spastic Paraplegia Type 29

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.

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.

Click here to know more about Mendelian.

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.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Sources and references

You can check the following sources for additional information.

OMIM MESH ORPHANET Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like THYROID DYSHORMONOGENESIS 4; TDH4 SPINOCEREBELLAR ATAXIA 12; SCA12 MYOTUBULAR MYOPATHY WITH ABNORMAL GENITAL DEVELOPMENT ATHYREOSIS ALBINISM, OCULOCUTANEOUS, TYPE VII; OCA7 2P21 MICRODELETION SYNDROME

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more