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  3. SPG41

SPG41 gene related symptoms and diseases

All the information presented here about the SPG41 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.

Table of contents:

Top 5 symptoms and clinical features associated to SPG41 gene

Symptoms // Phenotype % Cases
Seizures Very Common - Between 80% and 100% cases
EMG abnormality Very Common - Between 80% and 100% cases
Spinal cord lesion Very Common - Between 80% and 100% cases
Abnormality of the cerebrospinal fluid Very Common - Between 80% and 100% cases
Lower limb amyotrophy Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with SPG41 gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Hand muscle weakness
  • Degeneration of the lateral corticospinal tracts
  • Progressive spastic paraplegia
  • Urinary urgency
  • Spastic gait
  • Muscle weakness
  • Lower limb spasticity
  • Small hand

And 6 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to SPG41 gene

Here you will find a list of rare diseases related to the SPG41. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 41

Alternate names

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 41 Is also known as spg41

Description

Autosomal dominant spastic paraplegia type 41 is a pure form of hereditary spastic paraplegia characterized by onset in adolescence or early adulthood of slowly progressive spastic paraplegia, proximal muscle weakness of the lower extremities and small hand muscles, hyperreflexia, spastic gait and mild urinary compromise.

Most common symptoms of AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 41

  • Seizures
  • Muscle weakness
  • Hyperreflexia
  • Proximal muscle weakness
  • Spastic paraplegia


More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 41

SOURCES: ORPHANET OMIM



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