MMND
MCID: MDR004
MIFTS: 28

Madras Motor Neuron Disease (MMND)

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Madras Motor Neuron Disease

MalaCards integrated aliases for Madras Motor Neuron Disease:

Name: Madras Motor Neuron Disease 20 58 6
Mmnd 20 58

Characteristics:

Orphanet epidemiological data:

58
madras motor neuron disease
Inheritance: Not applicable,X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood;

Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Madras Motor Neuron Disease

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 137867 Definition Madras motor neuron disease (MMND) is characterized by weakness and atrophy of limbs, multiple lower cranial nerve palsies and sensorineural hearing loss. Epidemiology Less than 200 cases have be reported to date, predominantly from Southern India. Isolated MMND cases have been reported from Thailand and Italy. Clinical description Onset occurs at a young age (often before the age of 15), with a slight male preponderance or equal sex distribution. Parental consanguinity has been reported in some cases. Main clinical features include thin habitus, wasting and weakness predominantly of the distal limb muscles, involvement of facial and bulbar muscles, and pyramidal dysfunction. Multiple cranial nerve palsies particularly involve the 7th, and the 9th to 12th cranial nerves. Hearing impairment was described in all patients. Optic atrophy is reported in some patients. Etiology The etiopathogenesis of MMND remains unknown. The majority of cases are sporadic. A few familial cases have been reported, but the mode of inheritance is yet to be determined. Inflammation and/or environmental factors may play a role in the etiology of MMND. Diagnostic methods Diagnosis is clinical and is supported by the association of benign focal atrophy of the extremities with hearing impairment. Neuroimaging studies may help to distinguish MMND from other motor neuron diseases. Differential diagnosis Differential diagnoses include amyotrophic lateral sclerosis, spinocerebellar ataxia syndromes, Brown-Vialetto-Van Laere syndrome, progressive muscular atrophy, post-polio progressive muscular atrophy, and spinal muscular atrophy (see these terms). Management and treatment Currently, there is no cure for MMND. Management should involve a multidisciplinary team ( neurologists, physical therapists, occupational therapists, palliative care specialists, specialist nurses and psychologists) and should focus on the relief of symptoms. Symptomatic treatment and supportive care can help patients to maintain their daily living activities. Patients should be offered hearing aids. Prognosis The disease shows a slowly progressive but benign course. Most of the reported patients survived for over 30 years after the onset of the disease.

MalaCards based summary : Madras Motor Neuron Disease, also known as mmnd, is related to motor neuron disease and fazio-londe disease. An important gene associated with Madras Motor Neuron Disease is SLC52A3 (Solute Carrier Family 52 Member 3), and among its related pathways/superpathways is Metabolism of water-soluble vitamins and cofactors. Affiliated tissues include cerebellum, and related phenotypes are sensorineural hearing impairment and bulbar palsy

Wikipedia : 73 Madras motor neuron disease is a rare motor neuron disease originating in South India. Two other forms... more...

Related Diseases for Madras Motor Neuron Disease

Graphical network of the top 20 diseases related to Madras Motor Neuron Disease:



Diseases related to Madras Motor Neuron Disease

Symptoms & Phenotypes for Madras Motor Neuron Disease

Human phenotypes related to Madras Motor Neuron Disease:

58 31 (showing 17, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000407
2 bulbar palsy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001283
3 weak voice 58 31 frequent (33%) Frequent (79-30%) HP:0001621
4 babinski sign 58 31 frequent (33%) Frequent (79-30%) HP:0003487
5 hyperactive deep tendon reflexes 58 31 frequent (33%) Frequent (79-30%) HP:0006801
6 distal muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0002460
7 distal amyotrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003693
8 limb fasciculations 58 31 frequent (33%) Frequent (79-30%) HP:0007289
9 dysphagia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002015
10 optic atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000648
11 reduced tendon reflexes 58 31 occasional (7.5%) Occasional (29-5%) HP:0001315
12 schizophrenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0100753
13 abnormal cerebellum morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001317
14 tinnitus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000360
15 facial palsy 58 31 very rare (1%) Very rare (<4-1%) HP:0010628
16 reduced visual acuity 58 31 very rare (1%) Very rare (<4-1%) HP:0007663
17 visual impairment 58 Occasional (29-5%)

Drugs & Therapeutics for Madras Motor Neuron Disease

Search Clinical Trials , NIH Clinical Center for Madras Motor Neuron Disease

Genetic Tests for Madras Motor Neuron Disease

Anatomical Context for Madras Motor Neuron Disease

MalaCards organs/tissues related to Madras Motor Neuron Disease:

40
Cerebellum

Publications for Madras Motor Neuron Disease

Articles related to Madras Motor Neuron Disease:

(showing 21, show less)
# Title Authors PMID Year
1
Pure Red Iridium(III) Complexes Possessing Good Electron Mobility with 1,5-Naphthyridin-4-ol Derivatives for High-Performance OLEDs with an EQE over 31. 61
31070035 2019
2
A Madras Motor Neuron Disease Patient With Cerebellar Atrophy: A New Clinical Feature. 61
30349455 2018
3
What is in the Literature? 61
29189555 2017
4
Malnutrition in Bariatric Surgery Candidates: Multiple Micronutrient Deficiencies Prior to Surgery. 61
26297429 2016
5
Mitochondrial DNA variations in Madras motor neuron disease. 61
23419391 2013
6
Madras motor neuron disease (MMND) is distinct from the riboflavin transporter genetic defects that cause Brown-Vialetto-Van Laere syndrome. 61
24139842 2013
7
Chin fasciculations in Madras motor neuron disease: a new clinical feature. 61
24441336 2013
8
Cognitive potential of children with attention deficit and hyperactivity disorder. 61
24141677 2013
9
Madras motor neuron disease: crossing borders. 61
23286753 2013
10
Madras motor neuron disease in Turkey. 61
19922122 2009
11
Mismatch negativity in patients with (central) auditory processing disorders. 61
19082352 2008
12
First case of Madras motor neuron disease from Korea. 61
18563717 2008
13
Madras motor neuron disease (MMND): clinical description and survival pattern of 116 patients from Southern India seen over 36 years (1971-2007). 61
18261745 2008
14
Brown-Vialetto-Van Laere syndrome. 61
18416855 2008
15
Familial Madras motor neuron disease (FMMND): study of 15 families from southern India. 61
17010382 2006
16
Madras pattern of motor neuron disease: improvement of symptoms with intravenous immunoglobulin. 61
15253401 2004
17
Madras motor neuron disease variant, clinical features of seven patients. 61
12686396 2003
18
Pathology of Madras type of motor neuron disease (MMND)--a histological and immunohistochemical study. 61
10787043 2000
19
Delayed focal involvement of upper motor neurons in the Madras pattern of motor neuron disease. 61
10030685 1998
20
Pattern of motor neurone disease in eastern India. 61
9262127 1997
21
Madras pattern of motor neuron disease in South India. 61
3404185 1988

Variations for Madras Motor Neuron Disease

ClinVar genetic disease variations for Madras Motor Neuron Disease:

6 (showing 1, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC52A3 NM_033409.4(SLC52A3):c.802C>T (p.Arg268Trp) SNV Likely pathogenic 873320 GRCh37: 20:744413-744413
GRCh38: 20:763769-763769

Expression for Madras Motor Neuron Disease

Search GEO for disease gene expression data for Madras Motor Neuron Disease.

Pathways for Madras Motor Neuron Disease

GO Terms for Madras Motor Neuron Disease

Cellular components related to Madras Motor Neuron Disease according to GeneCards Suite gene sharing:

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 8.8 SLC52A3 SLC52A2 SLC52A1

Biological processes related to Madras Motor Neuron Disease according to GeneCards Suite gene sharing:

(showing 3, show less)
# Name GO ID Score Top Affiliating Genes
1 viral entry into host cell GO:0046718 9.16 SLC52A2 SLC52A1
2 riboflavin metabolic process GO:0006771 9.13 SLC52A3 SLC52A2 SLC52A1
3 riboflavin transport GO:0032218 8.8 SLC52A3 SLC52A2 SLC52A1

Molecular functions related to Madras Motor Neuron Disease according to GeneCards Suite gene sharing:

(showing 2, show less)
# Name GO ID Score Top Affiliating Genes
1 virus receptor activity GO:0001618 8.96 SLC52A2 SLC52A1
2 riboflavin transmembrane transporter activity GO:0032217 8.8 SLC52A3 SLC52A2 SLC52A1

Sources for Madras Motor Neuron Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
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39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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