MCID: SPN267
MIFTS: 25

Spinal Muscular Atrophy, Jokela Type

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Muscle diseases

Aliases & Classifications for Spinal Muscular Atrophy, Jokela Type

MalaCards integrated aliases for Spinal Muscular Atrophy, Jokela Type:

Name: Spinal Muscular Atrophy, Jokela Type 57 75 29 13 6 73
Smaj 57 75
Lower Motor Neuron Syndrome with Late-Adult Onset 59
Atrophy, Muscular, Spinal, Jokela Type 40

Characteristics:

Orphanet epidemiological data:

59
lower motor neuron syndrome with late-adult onset
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
slowly progressive
patients remain ambulatory
onset in mid-adulthood
increased prevalence among the finnish


HPO:

32
spinal muscular atrophy, jokela type:
Onset and clinical course slow progression
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Spinal Muscular Atrophy, Jokela Type

OMIM : 57 The Jokela type of spinal muscular atrophy (SMAJ) is an autosomal dominant lower motor neuron disorder characterized by adult-onset of muscle cramps and fasciculations affecting the proximal and distal muscles of the upper and lower limbs. The disorder is slowly progressive, resulting in weakness and mild muscle atrophy later in life (summary by Jokela et al., 2011). (615048)

MalaCards based summary : Spinal Muscular Atrophy, Jokela Type, also known as smaj, is related to frontotemporal dementia and/or amyotrophic lateral sclerosis 2 and myopathy, isolated mitochondrial, autosomal dominant, and has symptoms including muscular fasciculation An important gene associated with Spinal Muscular Atrophy, Jokela Type is CHCHD10 (Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing 10). Affiliated tissues include skeletal muscle, and related phenotypes are hyporeflexia and areflexia

UniProtKB/Swiss-Prot : 75 Spinal muscular atrophy, Jokela type: An autosomal dominant, slowly progressive, lower motor neuron disease. SMAJ is characterized by adult-onset of muscle cramps and fasciculations affecting the proximal and distal muscles of the upper and lower limbs. The disorder results in weakness and mild muscle atrophy later in life.

Related Diseases for Spinal Muscular Atrophy, Jokela Type

Diseases related to Spinal Muscular Atrophy, Jokela Type via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 frontotemporal dementia and/or amyotrophic lateral sclerosis 2 8.8 C22orf15 CHCHD10 LOC107985577
2 myopathy, isolated mitochondrial, autosomal dominant 8.6 C22orf15 CHCHD10 LOC107985577

Symptoms & Phenotypes for Spinal Muscular Atrophy, Jokela Type

Symptoms via clinical synopsis from OMIM:

57
Skeletal Feet:
pes planus
pes cavus
hammertoes

Muscle Soft Tissue:
fasciculations
calf hypertrophy (in some patients)
painful muscle cramps
neurogenic changes seen on emg
muscle weakness, proximal and distal, affecting upper and lower limbs
more
Laboratory Abnormalities:
increased serum creatine kinase

Neurologic Peripheral Nervous System:
areflexia
hyporeflexia
distal sensory impairment, mild (in some patients)

Neurologic Central Nervous System:
difficulty walking
tremor (in some patients)
lower motor neuron disease affecting upper and lower limbs


Clinical features from OMIM:

615048

Human phenotypes related to Spinal Muscular Atrophy, Jokela Type:

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 hyporeflexia 32 HP:0001265
2 areflexia 32 HP:0001284
3 tremor 32 occasional (7.5%) HP:0001337
4 pes cavus 32 HP:0001761
5 pes planus 32 HP:0001763
6 hammertoe 32 HP:0001765
7 difficulty walking 32 HP:0002355
8 fasciculations 32 HP:0002380
9 distal sensory impairment 32 occasional (7.5%) HP:0002936
10 skeletal muscle atrophy 32 HP:0003202
11 elevated serum creatine phosphokinase 32 HP:0003236
12 spinal muscular atrophy 32 HP:0007269
13 calf muscle hypertrophy 32 occasional (7.5%) HP:0008981

UMLS symptoms related to Spinal Muscular Atrophy, Jokela Type:


muscular fasciculation

GenomeRNAi Phenotypes related to Spinal Muscular Atrophy, Jokela Type according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased caspase activity GR00400-S-1 9.23 CHCHD10 C22orf15
2 Increased caspase activity GR00400-S-2 9.23 CHCHD10 C22orf15
3 Decreased POU5F1-GFP protein expression GR00184-A-1 9.13 C22orf15 CHCHD10
4 Decreased POU5F1-GFP protein expression GR00184-A-4 9.13 CHCHD10

Drugs & Therapeutics for Spinal Muscular Atrophy, Jokela Type

Search Clinical Trials , NIH Clinical Center for Spinal Muscular Atrophy, Jokela Type

Genetic Tests for Spinal Muscular Atrophy, Jokela Type

Genetic tests related to Spinal Muscular Atrophy, Jokela Type:

# Genetic test Affiliating Genes
1 Spinal Muscular Atrophy, Jokela Type 29 CHCHD10

Anatomical Context for Spinal Muscular Atrophy, Jokela Type

MalaCards organs/tissues related to Spinal Muscular Atrophy, Jokela Type:

41
Skeletal Muscle

Publications for Spinal Muscular Atrophy, Jokela Type

Variations for Spinal Muscular Atrophy, Jokela Type

UniProtKB/Swiss-Prot genetic disease variations for Spinal Muscular Atrophy, Jokela Type:

75
# Symbol AA change Variation ID SNP ID
1 CHCHD10 p.Gly66Val VAR_073285 rs730880031

ClinVar genetic disease variations for Spinal Muscular Atrophy, Jokela Type:

6
(show all 38)
# Gene Variation Type Significance SNP ID Assembly Location
1 CHCHD10 NM_001301339.1(CHCHD10): c.197G> T (p.Gly66Val) single nucleotide variant Pathogenic rs730880031 GRCh38 Chromosome 22, 23767438: 23767438
2 CHCHD10 NM_001301339.1(CHCHD10): c.197G> T (p.Gly66Val) single nucleotide variant Pathogenic rs730880031 GRCh37 Chromosome 22, 24109625: 24109625
3 CHCHD10 NM_001301339.1(CHCHD10): c.239C> T (p.Pro80Leu) single nucleotide variant Likely benign rs775332895 GRCh37 Chromosome 22, 24109583: 24109583
4 CHCHD10 NM_001301339.1(CHCHD10): c.239C> T (p.Pro80Leu) single nucleotide variant Likely benign rs775332895 GRCh38 Chromosome 22, 23767396: 23767396
5 CHCHD10 NM_001301339.1(CHCHD10): c.100C> T (p.Pro34Ser) single nucleotide variant Likely benign rs551521196 GRCh37 Chromosome 22, 24109722: 24109722
6 CHCHD10 NM_001301339.1(CHCHD10): c.100C> T (p.Pro34Ser) single nucleotide variant Likely benign rs551521196 GRCh38 Chromosome 22, 23767535: 23767535
7 CHCHD10 NM_213720.2(CHCHD10): c.330G> A (p.Leu110=) single nucleotide variant Benign rs138183274 GRCh38 Chromosome 22, 23766207: 23766207
8 CHCHD10 NM_213720.2(CHCHD10): c.330G> A (p.Leu110=) single nucleotide variant Benign rs138183274 GRCh37 Chromosome 22, 24108394: 24108394
9 CHCHD10 NM_213720.2(CHCHD10): c.286C> A (p.Pro96Thr) single nucleotide variant Benign rs111677724 GRCh38 Chromosome 22, 23766251: 23766251
10 CHCHD10 NM_213720.2(CHCHD10): c.286C> A (p.Pro96Thr) single nucleotide variant Benign rs111677724 GRCh37 Chromosome 22, 24108438: 24108438
11 CHCHD10 NM_213720.2(CHCHD10): c.234G> A (p.Ser78=) single nucleotide variant Benign rs111527940 GRCh37 Chromosome 22, 24109588: 24109588
12 CHCHD10 NM_213720.2(CHCHD10): c.234G> A (p.Ser78=) single nucleotide variant Benign rs111527940 GRCh38 Chromosome 22, 23767401: 23767401
13 CHCHD10 NM_213720.2(CHCHD10): c.136G> T (p.Ala46Ser) single nucleotide variant Benign rs200831077 GRCh37 Chromosome 22, 24109686: 24109686
14 CHCHD10 NM_213720.2(CHCHD10): c.136G> T (p.Ala46Ser) single nucleotide variant Benign rs200831077 GRCh38 Chromosome 22, 23767499: 23767499
15 CHCHD10 NM_213720.2(CHCHD10): c.21C> T (p.Ser7=) single nucleotide variant Likely benign rs984321947 GRCh37 Chromosome 22, 24110041: 24110041
16 CHCHD10 NM_213720.2(CHCHD10): c.21C> T (p.Ser7=) single nucleotide variant Likely benign rs984321947 GRCh38 Chromosome 22, 23767854: 23767854
17 CHCHD10 NC_000022.11: g.(?_23765987)_(23767894_?)dup duplication Uncertain significance GRCh37 Chromosome 22, 24108174: 24110081
18 CHCHD10 NC_000022.11: g.(?_23765987)_(23767894_?)dup duplication Uncertain significance GRCh38 Chromosome 22, 23765987: 23767894
19 CHCHD10 NM_213720.2(CHCHD10): c.214G> A (p.Ala72Thr) single nucleotide variant Uncertain significance rs542541060 GRCh37 Chromosome 22, 24109608: 24109608
20 CHCHD10 NM_213720.2(CHCHD10): c.214G> A (p.Ala72Thr) single nucleotide variant Uncertain significance rs542541060 GRCh38 Chromosome 22, 23767421: 23767421
21 CHCHD10 NM_213720.2(CHCHD10): c.378C> T (p.Ser126=) single nucleotide variant Likely benign rs199579266 GRCh37 Chromosome 22, 24108346: 24108346
22 CHCHD10 NM_213720.2(CHCHD10): c.378C> T (p.Ser126=) single nucleotide variant Likely benign rs199579266 GRCh38 Chromosome 22, 23766159: 23766159
23 CHCHD10 NM_213720.2(CHCHD10): c.349A> T (p.Ser117Cys) single nucleotide variant Uncertain significance rs931085449 GRCh37 Chromosome 22, 24108375: 24108375
24 CHCHD10 NM_213720.2(CHCHD10): c.349A> T (p.Ser117Cys) single nucleotide variant Uncertain significance rs931085449 GRCh38 Chromosome 22, 23766188: 23766188
25 CHCHD10 NM_213720.2(CHCHD10): c.41+7G> A single nucleotide variant Benign rs141526972 GRCh37 Chromosome 22, 24110014: 24110014
26 CHCHD10 NM_213720.2(CHCHD10): c.41+7G> A single nucleotide variant Benign rs141526972 GRCh38 Chromosome 22, 23767827: 23767827
27 CHCHD10 NM_213720.2(CHCHD10): c.42-7C> G single nucleotide variant Benign rs567239313 GRCh37 Chromosome 22, 24109787: 24109787
28 CHCHD10 NM_213720.2(CHCHD10): c.42-7C> G single nucleotide variant Benign rs567239313 GRCh38 Chromosome 22, 23767600: 23767600
29 CHCHD10 NM_213720.2(CHCHD10): c.403T> C (p.Tyr135His) single nucleotide variant Likely benign rs145649831 GRCh37 Chromosome 22, 24108321: 24108321
30 CHCHD10 NM_213720.2(CHCHD10): c.403T> C (p.Tyr135His) single nucleotide variant Likely benign rs145649831 GRCh38 Chromosome 22, 23766134: 23766134
31 CHCHD10 NM_213720.2(CHCHD10): c.42-9C> A single nucleotide variant Likely benign GRCh37 Chromosome 22, 24109789: 24109789
32 CHCHD10 NM_213720.2(CHCHD10): c.42-9C> A single nucleotide variant Likely benign GRCh38 Chromosome 22, 23767602: 23767602
33 CHCHD10 NM_213720.2(CHCHD10): c.274G> A (p.Ala92Thr) single nucleotide variant Uncertain significance rs374353973 GRCh37 Chromosome 22, 24108450: 24108450
34 CHCHD10 NM_213720.2(CHCHD10): c.274G> A (p.Ala92Thr) single nucleotide variant Uncertain significance rs374353973 GRCh38 Chromosome 22, 23766263: 23766263
35 CHCHD10 NM_213720.2(CHCHD10): c.113C> T (p.Pro38Leu) single nucleotide variant Uncertain significance rs564997204 GRCh37 Chromosome 22, 24109709: 24109709
36 CHCHD10 NM_213720.2(CHCHD10): c.113C> T (p.Pro38Leu) single nucleotide variant Uncertain significance rs564997204 GRCh38 Chromosome 22, 23767522: 23767522
37 CHCHD10 NM_213720.2(CHCHD10): c.327C> G (p.Phe109Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 22, 23766210: 23766210
38 CHCHD10 NM_213720.2(CHCHD10): c.327C> G (p.Phe109Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 22, 24108397: 24108397

Expression for Spinal Muscular Atrophy, Jokela Type

Search GEO for disease gene expression data for Spinal Muscular Atrophy, Jokela Type.

Pathways for Spinal Muscular Atrophy, Jokela Type

GO Terms for Spinal Muscular Atrophy, Jokela Type

Sources for Spinal Muscular Atrophy, Jokela Type

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74 UMLS via Orphanet
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