1. Mendelian
  2. Rare Disease Genes
  3. ADSSL1

ADSSL1 gene related symptoms and diseases

All the information presented here about the ADSSL1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to ADSSL1 gene

Symptoms // Phenotype % Cases
Muscle weakness Very Common - Between 80% and 100% cases
Flexion contracture Very Common - Between 80% and 100% cases
High palate Very Common - Between 80% and 100% cases
Myopathy Very Common - Between 80% and 100% cases
Hyporeflexia Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with ADSSL1 gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Elevated serum creatine phosphokinase
  • Facial palsy
  • Distal muscle weakness
  • Distal amyotrophy
  • Sensory impairment
  • Mildly elevated creatine phosphokinase
  • Rimmed vacuoles
  • Muscle fiber splitting

And 1 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to ADSSL1 gene

Here you will find a list of rare diseases related to the ADSSL1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


ADENYLOSUCCINATE SYNTHETASE-LIKE 1-RELATED DISTAL MYOPATHY

Alternate names

ADENYLOSUCCINATE SYNTHETASE-LIKE 1-RELATED DISTAL MYOPATHY Is also known as adssl1-related distal myopathy

Description

Distal myopathy-5 is an autosomal recessive, slowly progressive muscle disorder characterized by adolescent onset of distal muscle weakness and atrophy predominantly affecting the lower limbs. Other features include facial weakness and hyporeflexia. Patients remain ambulatory even after long disease duration (summary by Park et al., 2016).

Most common symptoms of ADENYLOSUCCINATE SYNTHETASE-LIKE 1-RELATED DISTAL MYOPATHY

  • Muscle weakness
  • Flexion contracture
  • High palate
  • Myopathy
  • Hyporeflexia


More info about ADENYLOSUCCINATE SYNTHETASE-LIKE 1-RELATED DISTAL MYOPATHY

SOURCES: OMIM ORPHANET



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