Primary lateral sclerosis, juvenile

Preferred Label : Primary lateral sclerosis, juvenile;

Symbol : PLSJ;

CISMeF acronym : PLSJ;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Pls, juvenile;

Description : Although primary lateral sclerosis is similar to amyotrophic lateral sclerosis (ALS; 105400), they are considered to be clinically distinct progressive paralytic neurodegenerative disorders. Following a period of diagnostic confusion, the clinical distinction between ALS and PLS became clear and diagnostic criteria established (Pringle et al., 1992). PLS is characterized by degeneration of the upper motor neurons and the corticospinal and corticobulbar tracts, whereas ALS is a more severe disorder characterized by degeneration of both the upper and lower motor neurons. A diagnosis of PLS is essentially one of exclusion (Sotaniemi and Myllyla, 1985; Younger et al., 1988; Yang et al., 2001).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the alsin Rho guanine nucleotide exchange factor ALS2 gene (ALS2, 606352.0002);

Prefixed ID : #606353;

Details

Origin ID

606353;

UMLS CUI

C1853396;

Currated CISMeF NLP mapping
- Juvenile primary lateral sclerosis [ORDO Disease]
- Juvenile primary lateral sclerosis (disorder) [SNOMED CT concept]
- Motor neuron disease [ICD-10 Sub-category (who)]
- Primary Lateral Sclerosis [NCIt concept]
- Primary lateral sclerosis [ICD-9 code]
- Primary lateral sclerosis [ICD-11 Subcategory]
- Primary lateral sclerosis [ORDO Disease]
- Primary lateral sclerosis [MedDRA LLT]
- Primary lateral sclerosis (disorder) [SNOMED CT concept]
- Primary lateral sclerosis juvenile [MeSH concept]
- lateral sclerosis [MeSH concept]
- motor neuron disease [MeSH Descriptor]
- primary lateral sclerosis [Disease (Nov.)]
- primary lateral sclerosis [SNOMED Notion]
- primary lateral sclerosis juvenile [MeSH Supplementary Concept]
Genes related to phenotype
- Alsin rho guanine nucleotide exchange factor als2 [OMIM gene]
HPO term(s)
- Abnormal upper motor neuron morphology [HPO term]
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Cerebral cortical atrophy [HPO term]
- Childhood onset [HPO term]
- Difficulty in tongue movements [HPO term]
- Dysphagia [HPO term]
- Hyperreflexia [HPO term]
- Juvenile onset [HPO term]
- Pallor [HPO term]
- Pseudobulbar behavioral symptoms [HPO term]
- Saccadic smooth pursuit [HPO term]
- Slowly progressive [HPO term]
- Spastic dysarthria [HPO term]
- Spastic gait [HPO term]
- Spastic tetraparesis [HPO term]
- Spasticity of facial muscles [HPO term]
- Spasticity of pharyngeal muscles [HPO term]
Matching ORDO disease(s)
- Primary lateral sclerosis [ORDO Disease]
ORDO concept(s)
- Juvenile primary lateral sclerosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Juvenile primary lateral sclerosis [ORDO Disease]
- Juvenile primary lateral sclerosis (disorder) [SNOMED CT concept]
- Primary lateral sclerosis juvenile [MeSH concept]
- primary lateral sclerosis juvenile [MeSH Supplementary Concept]

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