MCID: AMY094
MIFTS: 24

Amyotrophic Lateral Sclerosis 5, Juvenile

Categories: Genetic diseases, Rare diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Amyotrophic Lateral Sclerosis 5, Juvenile

MalaCards integrated aliases for Amyotrophic Lateral Sclerosis 5, Juvenile:

Name: Amyotrophic Lateral Sclerosis 5, Juvenile 57 75
Als5 57 75
Amyotrophic Lateral Sclerosis 5 73

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
slowly progressive
onset in first or second decade
some patients may become wheelchair-bound
survival 30 to 40 years after onset


HPO:

32
amyotrophic lateral sclerosis 5, juvenile:
Onset and clinical course slow progression juvenile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Amyotrophic Lateral Sclerosis 5, Juvenile

UniProtKB/Swiss-Prot : 75 Amyotrophic lateral sclerosis 5, juvenile: A form of amyotrophic lateral sclerosis, a neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. ALS5 is an autosomal recessive, juvenile form characterized by onset of upper and lower motor neuron signs before age 25.

MalaCards based summary : Amyotrophic Lateral Sclerosis 5, Juvenile, also known as als5, is related to amyotrophic lateral sclerosis type 5 and amyotrophic lateral sclerosis 4, juvenile, and has symptoms including muscular fasciculation, muscle spasticity and abnormal pyramidal signs. An important gene associated with Amyotrophic Lateral Sclerosis 5, Juvenile is SPG11 (SPG11, Spatacsin Vesicle Trafficking Associated). Affiliated tissues include brain, spinal cord and tongue, and related phenotypes are spasticity and dysarthria

OMIM : 57 Autosomal recessive juvenile amyotrophic lateral sclerosis-5 is a neurodegenerative disorder characterized by onset of upper and lower motor neuron signs before age 25. Affected individuals have progressive spasticity of limb and facial muscles associated with distal amyotrophy. The disorder is slowly progressive, with cases of prolonged survival of more than 3 decades (summary by Orlacchio et al., 2010). For a phenotypic description and a discussion of genetic heterogeneity of amyotrophic lateral sclerosis (ALS), see ALS1 (105400). (602099)

Related Diseases for Amyotrophic Lateral Sclerosis 5, Juvenile

Symptoms & Phenotypes for Amyotrophic Lateral Sclerosis 5, Juvenile

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
spasticity
dysarthria
hyperreflexia
bulbar signs
pyramidal signs
more
Head And Neck Mouth:
tongue weakness
poor palatal elevation

Head And Neck Face:
increased facial reflexes
jaw spasticity
weak masseter muscles

Muscle Soft Tissue:
fasciculations
distal muscle weakness
distal muscle atrophy
fibrillations
chronic neurogenic changes seen on emg

Respiratory:
respiratory failure due to muscle weakness

Neurologic Peripheral Nervous System:
decreased amplitude of compound muscle action potentials


Clinical features from OMIM:

602099

Human phenotypes related to Amyotrophic Lateral Sclerosis 5, Juvenile:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 spasticity 32 HP:0001257
2 dysarthria 32 HP:0001260
3 hyperreflexia 32 HP:0001347
4 abnormal lower motor neuron morphology 32 HP:0002366
5 fasciculations 32 HP:0002380
6 distal muscle weakness 32 HP:0002460
7 bulbar signs 32 HP:0002483
8 respiratory insufficiency due to muscle weakness 32 HP:0002747
9 babinski sign 32 HP:0003487
10 distal amyotrophy 32 HP:0003693
11 amyotrophic lateral sclerosis 32 HP:0007354

UMLS symptoms related to Amyotrophic Lateral Sclerosis 5, Juvenile:


muscular fasciculation, muscle spasticity, abnormal pyramidal signs, upper motor neuron signs

Drugs & Therapeutics for Amyotrophic Lateral Sclerosis 5, Juvenile

Search Clinical Trials , NIH Clinical Center for Amyotrophic Lateral Sclerosis 5, Juvenile

Genetic Tests for Amyotrophic Lateral Sclerosis 5, Juvenile

Anatomical Context for Amyotrophic Lateral Sclerosis 5, Juvenile

MalaCards organs/tissues related to Amyotrophic Lateral Sclerosis 5, Juvenile:

41
Brain, Spinal Cord, Tongue

Publications for Amyotrophic Lateral Sclerosis 5, Juvenile

Variations for Amyotrophic Lateral Sclerosis 5, Juvenile

ClinVar genetic disease variations for Amyotrophic Lateral Sclerosis 5, Juvenile:

6
(show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 SPG11 NM_025137.3(SPG11): c.118C> T (p.Gln40Ter) single nucleotide variant Pathogenic rs267607084 GRCh37 Chromosome 15, 44955728: 44955728
2 SPG11 NM_025137.3(SPG11): c.118C> T (p.Gln40Ter) single nucleotide variant Pathogenic rs267607084 GRCh38 Chromosome 15, 44663530: 44663530
3 SPG11 NM_025137.3(SPG11): c.733_734delAT (p.Met245Valfs) deletion Pathogenic rs312262720 GRCh37 Chromosome 15, 44949428: 44949429
4 SPG11 NM_025137.3(SPG11): c.733_734delAT (p.Met245Valfs) deletion Pathogenic rs312262720 GRCh38 Chromosome 15, 44657230: 44657231
5 SPG11 NM_025137.3(SPG11): c.2198T> G (p.Leu733Ter) single nucleotide variant Pathogenic rs312262739 GRCh37 Chromosome 15, 44918575: 44918575
6 SPG11 NM_025137.3(SPG11): c.2198T> G (p.Leu733Ter) single nucleotide variant Pathogenic rs312262739 GRCh38 Chromosome 15, 44626377: 44626377
7 SPG11 NM_025137.3(SPG11): c.267G> A (p.Trp89Ter) single nucleotide variant Pathogenic rs312262709 GRCh37 Chromosome 15, 44952805: 44952805
8 SPG11 NM_025137.3(SPG11): c.267G> A (p.Trp89Ter) single nucleotide variant Pathogenic rs312262709 GRCh38 Chromosome 15, 44660607: 44660607
9 SPG11 NM_025137.3(SPG11): c.5974C> T (p.Arg1992Ter) single nucleotide variant Pathogenic rs200793464 GRCh37 Chromosome 15, 44867132: 44867132
10 SPG11 NM_025137.3(SPG11): c.5974C> T (p.Arg1992Ter) single nucleotide variant Pathogenic rs200793464 GRCh38 Chromosome 15, 44574934: 44574934
11 SPG11 NM_025137.3(SPG11): c.7029dupT (p.Val2344Cysfs) duplication Pathogenic rs312262788 GRCh37 Chromosome 15, 44856867: 44856867
12 SPG11 NM_025137.3(SPG11): c.7029dupT (p.Val2344Cysfs) duplication Pathogenic rs312262788 GRCh38 Chromosome 15, 44564669: 44564669

Expression for Amyotrophic Lateral Sclerosis 5, Juvenile

Search GEO for disease gene expression data for Amyotrophic Lateral Sclerosis 5, Juvenile.

Pathways for Amyotrophic Lateral Sclerosis 5, Juvenile

GO Terms for Amyotrophic Lateral Sclerosis 5, Juvenile

Sources for Amyotrophic Lateral Sclerosis 5, Juvenile

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74 UMLS via Orphanet
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