SPG27 gene related symptoms and diseases

All the information presented here about the SPG27 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 SPG27 gene

Symptoms // Phenotype % Cases
Sensorineural hearing impairment Very Common - Between 80% and 100% cases
Spasticity Very Common - Between 80% and 100% cases
Hyperreflexia Very Common - Between 80% and 100% cases
Dysarthria Very Common - Between 80% and 100% cases
Babinski sign Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with SPG27 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Spastic paraplegia
  • Paraplegia
  • Lower limb spasticity
  • Paraparesis
  • Spastic paraparesis
  • Dysdiadochokinesis
  • Lower limb hyperreflexia
  • Impaired vibration sensation at ankles

And 2 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to SPG27 gene

Here you will find a list of rare diseases related to the SPG27. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 27

Alternate names

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 27 Is also known as spg27

Description

Autosomal recessive spastic paraplegia type 27 is a rare, pure or complex hereditary spastic paraplegia characterized by a variable onset of slowly progressive lower limb spasticity, hyperreflexia and extensor plantar responses, that may be associated with sensorimotor polyneuropathy, decreased vibration sense, lower limb distal muscle wasting, dysarthria and mild to moderate intellectual disability.

Most common symptoms of AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 27

  • Sensorineural hearing impairment
  • Spasticity
  • Hyperreflexia
  • Dysarthria
  • Babinski sign


More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 27

SOURCES: MESH OMIM ORPHANET



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