SPG36 gene related symptoms and diseases

All the information presented here about the SPG36 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to SPG36 gene

Symptoms // Phenotype % Cases
Strabismus Very Common - Between 80% and 100% cases
Urinary incontinence Very Common - Between 80% and 100% cases
Impaired distal tactile sensation Very Common - Between 80% and 100% cases
Demyelinating sensory neuropathy Very Common - Between 80% and 100% cases
Demyelinating motor neuropathy Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with SPG36 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Impaired distal proprioception
  • Impaired temperature sensation
  • Impaired distal vibration sensation
  • Impaired vibration sensation in the lower limbs
  • Progressive spastic paraplegia
  • Urinary urgency
  • Spastic gait
  • Lower limb spasticity

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

Rare diseases associated to SPG36 gene

Here you will find a list of rare diseases related to the SPG36. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 36

Alternate names

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 36 Is also known as spg36

Description

Autosomal dominant spastic paraplegia type 36 (SPG36) is a complex form of hereditary spastic paraplegia, characterized by an onset in childhood or adulthood of progressive spastic paraplegia (with spastic gait, spasticity, lower limb weakness, pes cavus and urinary urgency) associated with the additional manifestation of peripheral sensorimotor neuropathy.

Most common symptoms of AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 36

  • Strabismus
  • Spasticity
  • Peripheral neuropathy
  • Hyperreflexia
  • Babinski sign


More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 36

SOURCES: ORPHANET OMIM MESH



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