ODCs

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1 OMIM reference -
2 associated genes
16 signs/symptoms

PROTEIN INTERACTIONS: 1

3 OMIM references -
3 associated genes
No signs/symptoms info

Juvenile primary lateral sclerosis

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ALS2	(0.63)	VCP

Citations in the biomedical literature:

Juvenile primary lateral sclerosis		Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
	Synonym(s): - JPLS - Juvenile PLS		Synonym(s): - IBMPFD - Limb-girdle muscular dystrophy with Paget disease of bone - Pagetoid amyotrophic lateral sclerosis - Pagetoid neuroskeletal syndrome

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Diseases of the nervous system -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: any age Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: C536416		External references: 3 OMIM references - No MeSH references

Juvenile primary lateral sclerosis
	Very frequent - Abnormal gait - Ataxia / incoordination / trouble of the equilibrium - Autosomal recessive inheritance - Hemiplegia / diplegia / hemiparesia / limb palsy - Hypereflexia - Hypertonia / spasticity / rigidity / stiffness - Motor deficit / trouble - Muscle weakness / flaccidity - Pseudobulbar signs / spasmodic laugh and cry - Pyramidal syndrome Frequent - Elocution disorders / dysarthria / dysphonia - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia Occasional - Bladder and ureter anomalies - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Sensitive trouble / deficit
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
(no data available)