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
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