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 featuresPatients with SPG34 gene alterations may also develop some of the following symptoms and phenotypes:
Commonly - More than 50% cases
- Lower limb spasticity
- Spastic gait
- 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.
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
X-LINKED SPASTIC PARAPLEGIA TYPE 34 Is also known as spg34
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
- Babinski sign
- Spastic paraplegia
More info about X-LINKED SPASTIC PARAPLEGIA TYPE 34