MCID: RGD002
MIFTS: 32

Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

MalaCards integrated aliases for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal:

Name: Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal 53 71 28 13 69
Rmfsl 53 71
Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome 55
Lethal Neonatal Rigidity-Multifocal Seizure Syndrome 55
Muscle Rigidity 41

Characteristics:

Orphanet epidemiological data:

55
lethal neonatal spasticity-epileptic encephalopathy syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: infantile;

OMIM:

53
Miscellaneous:
death in infancy
onset at or soon after birth

Inheritance:
autosomal recessive


HPO:

31
rigidity and multifocal seizure syndrome, lethal neonatal:
Mortality/Aging death in infancy
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 55  
Rare neurological diseases


Summaries for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

UniProtKB/Swiss-Prot : 71 Rigidity and multifocal seizure syndrome, lethal neonatal: A lethal, neonatal, neurologic disorder characterized by episodic jerking that is apparent in utero, lack of psychomotor development, axial and limb rigidity, frequent multifocal seizures, and dysautonomia. At birth, affected individuals have small heads, overlapping cranial sutures, small or absent fontanels, and depressed frontal bones. Infants show poorly responsive focal jerks of the tongue, face and arms in a nearly continuous sequence throughout life.

MalaCards based summary : Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal, also known as rmfsl, is related to malignant hyperthermia and malignant hyperthermia 1, and has symptoms including clonus, dysautonomia and global developmental delay. An important gene associated with Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal is BRAT1 (BRCA1 Associated ATM Activator 1). Affiliated tissues include bone, tongue and cortex.

OMIM : 53 Lethal neonatal rigidity and multifocal seizure syndrome is a severe autosomal recessive epileptic encephalopathy characterized by onset of rigidity and intractable seizures at or soon after birth. Affected infants achieve no developmental milestones and die within the first months or years of life (summary by Saitsu et al., 2014). (614498)

Related Diseases for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

Graphical network of the top 20 diseases related to Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal:



Diseases related to Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

Symptoms & Phenotypes for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

Symptoms via clinical synopsis from OMIM:

53
NeurologicCentralNervousSystem:
clonus
hyperreflexia
dysautonomia
hypertonia
extensor plantar responses
more
CardiovascularHeart:
bradycardia

HeadAndNeckFace:
micrognathia (in some patients)

HeadAndNeckEyes:
optic atrophy (1 family)

PrenatalManifestationsMovement:
episodic myoclonic spasms

Respiratory:
apnea

Skeletal:
joint contractures

HeadAndNeckHead:
microcephaly, progressive
small head (-1.5 to 2 sd)

SkeletalSkull:
small or absent fontanels
depressed frontal bones
overlapping cranial sutures


Clinical features from OMIM:

614498

Human phenotypes related to Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal:

31 (show all 19)
# Description HPO Frequency HPO Source Accession
1 clonus 31 HP:0002169
2 dysautonomia 31 HP:0002459
3 global developmental delay 31 HP:0001263
4 microcephaly 31 HP:0000252
5 optic atrophy 31 occasional (7.5%) HP:0000648
6 hypertonia 31 HP:0001276
7 flexion contracture 31 HP:0001371
8 micrognathia 31 occasional (7.5%) HP:0000347
9 generalized myoclonic seizures 31 HP:0002123
10 babinski sign 31 HP:0003487
11 apnea 31 HP:0002104
12 rigidity 31 HP:0002063
13 neuronal loss in central nervous system 31 HP:0002529
14 gliosis 31 HP:0002171
15 progressive microcephaly 31 HP:0000253
16 bradycardia 31 HP:0001662
17 delayed myelination 31 occasional (7.5%) HP:0012448
18 myoclonic spasms 31 HP:0003739
19 multifocal seizures 31 HP:0031165

UMLS symptoms related to Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal:


apnea, clonus, myoclonic seizures

Drugs & Therapeutics for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

Search Clinical Trials , NIH Clinical Center for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

Cochrane evidence based reviews: muscle rigidity

Genetic Tests for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

Genetic tests related to Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal:

# Genetic test Affiliating Genes
1 Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal 28 BRAT1

Anatomical Context for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

MalaCards organs/tissues related to Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal:

38
Bone, Tongue, Cortex, Cerebellum

Publications for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

Articles related to Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal:

(show all 16)
# Title Authors Year
1
Propofol Reduces Succinylcholine-induced Muscle Rigidity in a Patient with Paramyotonia Congenita. ( 28298805 )
2017
2
Temporal changes in serum creatine kinase concentration and degree of muscle rigidity in 24 patients with neuroleptic malignant syndrome. ( 23818785 )
2013
3
Serotonin syndrome-muscle rigidity and confusion in the older adult. ( 22079646 )
2012
4
Elevated creatine kinase does not necessarily correspond temporally with onset of muscle rigidity in neuroleptic malignant syndrome: a report of two cases. ( 23271911 )
2012
5
Masseter muscle rigidity: Atypical malignant hyperthermia presentation or isolated event? ( 21189861 )
2010
6
Imidazoline I(1) receptor-mediated reduction of muscle rigidity in the reserpine-treated murine model of Parkinson's disease. ( 18602099 )
2008
7
The effects of olanzapine and fluphenazine on plasma cortisol, prolactin and muscle rigidity in schizophrenic patients: a double blind study. ( 17126974 )
2007
8
Raclopride and chlorpromazine, but not clozapine, increase muscle rigidity in the rat: relationship with D2 dopamine receptor occupancy. ( 10379524 )
1999
9
Masseter muscle rigidity associated with glycine1306-to-alanine mutation in the adult muscle sodium channel alpha-subunit gene. ( 7741283 )
1995
10
Masseter muscle rigidity and malignant hyperthermia susceptibility in pediatric patients. An update on management and diagnosis. ( 8010468 )
1994
11
The incidence of masseter muscle rigidity after succinylcholine in infants and children. ( 8069986 )
1994
12
Muscle rigidity in meningococcal meningitis. ( 8017607 )
1994
13
Muscle rigidity in meningococcal meningitis. ( 8285338 )
1993
14
Muscle rigidity following halothane anesthesia in two patients with Freeman-Sheldon syndrome. ( 1519800 )
1992
15
Malignant hyperthermia susceptibility in adult patients with masseter muscle rigidity. ( 2295104 )
1990
16
Masseter muscle rigidity and malignant hyperthermia susceptibility. ( 3942303 )
1986

Variations for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

ClinVar genetic disease variations for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 BRAT1 NM_152743.3(BRAT1): c.638dupA (p.Val214Glyfs) duplication Pathogenic rs730880324 GRCh37 Chromosome 7, 2583389: 2583389
2 BRAT1 NM_152743.3(BRAT1): c.453_454insGAGAAGAT (p.Leu152Glufs) insertion Pathogenic rs727505362 GRCh38 Chromosome 7, 2543939: 2543940
3 BRAT1 NM_152743.3(BRAT1): c.176T> C (p.Leu59Pro) single nucleotide variant Pathogenic rs727505363 GRCh37 Chromosome 7, 2587064: 2587064
4 BRAT1 NM_152743.3(BRAT1): c.962_963delTC (p.Leu321Profs) deletion Pathogenic rs727505364 GRCh37 Chromosome 7, 2581806: 2581807
5 BRAT1 NM_152743.3(BRAT1): c.1177delG (p.Ala393Leufs) deletion Pathogenic rs727505365 GRCh37 Chromosome 7, 2581076: 2581076
6 BRAT1 NM_152743.3(BRAT1): c.1857G> A (p.Trp619Ter) single nucleotide variant Pathogenic rs794729222 GRCh37 Chromosome 7, 2578312: 2578312
7 BRAT1 NM_152743.3(BRAT1): c.294dupA (p.Leu99Thrfs) duplication Pathogenic rs776913277 GRCh37 Chromosome 7, 2584679: 2584679
8 BRAT1 NM_152743.3(BRAT1): c.964C> T (p.Gln322Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 7, 2542171: 2542171
9 BRAT1 NC_000007.14: g.(?_2544889)_(2554451_?)del deletion Pathogenic GRCh38 Chromosome 7, 2544889: 2554451
10 BRAT1 NM_152743.3(BRAT1): c.1313_1314delAG (p.Gln438Argfs) deletion Pathogenic rs749240175 GRCh37 Chromosome 7, 2580939: 2580940

Expression for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

Search GEO for disease gene expression data for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal.

Pathways for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

GO Terms for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

Sources for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....