SPG34 gene related symptoms and diseases

All the information presented here about the SPG34 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to SPG34 gene

Symptoms // Phenotype % Cases
Pain Very Common - Between 80% and 100% cases
Spasticity Very Common - Between 80% and 100% cases
Hyperreflexia Very Common - Between 80% and 100% cases
Babinski sign Very Common - Between 80% and 100% cases
Spastic paraplegia Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with SPG34 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Paraplegia
  • Lower limb spasticity
  • Spastic gait
  • Clonus
  • Impaired vibratory sensation
  • Brisk reflexes
  • Ankle clonus
  • Impaired vibration sensation in the lower limbs

And 3 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to SPG34 gene

Here you will find a list of rare diseases related to the SPG34. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


X-LINKED SPASTIC PARAPLEGIA TYPE 34


Alternate names

X-LINKED SPASTIC PARAPLEGIA TYPE 34 Is also known as spg34

Description

X-linked spastic paraplegia type 34 is a pure form of hereditary spastic paraplegia characterized by late childhood- to early adulthood-onset of slowly progressive spastic paraplegia with spastic gait and lower limb hyperreflexia, brisk tendon reflexes and ankle clonus. Lower limb pain and reduced lower limb vibratory sense is also reported in some older adult patients.

Most common symptoms of X-LINKED SPASTIC PARAPLEGIA TYPE 34

  • Pain
  • Spasticity
  • Hyperreflexia
  • Babinski sign
  • Spastic paraplegia


More info about X-LINKED SPASTIC PARAPLEGIA TYPE 34

SOURCES: ORPHANET MESH OMIM




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