Madras motor neuron disease

MedGen UID:: 581442
•Concept ID:: C0393551
•: Disease or Syndrome

Synonyms:	Madras-type motor neurone disease; MMND
SNOMED CT:	Madras-type motor neurone disease (230255008)
Modes of inheritance:	X-linked recessive inheritance MedGen UID: 375779 •Concept ID: C1845977 • Finding Source: Orphanet A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. See: This record Not genetically inherited MedGen UID: 988794 •Concept ID: CN307044 • Finding Source: Orphanet clinical entity without genetic inheritance. See: This record X-linked recessive inheritance (Orphanet) Not genetically inherited (Orphanet)

Monarch Initiative:	MONDO:0015307
Orphanet:	ORPHA137867

Definition

Madras motor neuron disease (MMND) is characterized by weakness and atrophy of limbs, multiple lower cranial nerve palsies and sensorineural hearing loss. [from ORDO]

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

Madras motor neuron disease

Hereditary motor neuron disease
- Madras motor neuron disease

Follow this link to review classifications for Madras motor neuron disease in Orphanet.

Recent clinical studies

Etiology

Madras motor neuron disease (MMND) is distinct from the riboflavin transporter genetic defects that cause Brown-Vialetto-Van Laere syndrome.

Nalini A, Pandraud A, Mok K, Houlden H
J Neurol Sci 2013 Nov 15;334(1-2):119-22. Epub 2013 Aug 13 doi: 10.1016/j.jns.2013.08.003. PMID: 24139842 Free PMC Article

Madras motor neuron disease (MMND): clinical description and survival pattern of 116 patients from Southern India seen over 36 years (1971-2007).

Nalini A, Thennarasu K, Yamini BK, Shivashankar D, Krishna N
J Neurol Sci 2008 Jun 15;269(1-2):65-73. Epub 2008 Feb 7 doi: 10.1016/j.jns.2007.12.026. PMID: 18261745

Familial Madras motor neuron disease (FMMND): study of 15 families from southern India.

Nalini A, Yamini BK, Gayatri N, Thennarasu K, Gope R
J Neurol Sci 2006 Dec 1;250(1-2):140-6. Epub 2006 Sep 28 doi: 10.1016/j.jns.2006.08.010. PMID: 17010382

See all (3)

Diagnosis

Madras motor neuron disease in Turkey.

Isak B, Uluc K, Tanridag T, Ozsahin S, Dengler R, Us O, Petri S
Amyotroph Lateral Scler 2009 Oct-Dec;10(5-6):347-9. doi: 10.3109/17482960802645016. PMID: 19922122

Brown-Vialetto-Van Laere syndrome.

Sathasivam S
Orphanet J Rare Dis 2008 Apr 17;3:9. doi: 10.1186/1750-1172-3-9. PMID: 18416855 Free PMC Article

Familial Madras motor neuron disease (FMMND): study of 15 families from southern India.

Nalini A, Yamini BK, Gayatri N, Thennarasu K, Gope R
J Neurol Sci 2006 Dec 1;250(1-2):140-6. Epub 2006 Sep 28 doi: 10.1016/j.jns.2006.08.010. PMID: 17010382

Madras motor neuron disease variant, clinical features of seven patients.

Gourie-Devi M, Nalini A
J Neurol Sci 2003 May 15;209(1-2):13-7. doi: 10.1016/s0022-510x(02)00458-6. PMID: 12686396

See all (4)

Prognosis

Mitochondrial DNA variations in Madras motor neuron disease.

Govindaraj P, Nalini A, Krishna N, Sharath A, Khan NA, Tamang R, Gourie-Devi M, Brown RH, Thangaraj K
Mitochondrion 2013 Nov;13(6):721-8. Epub 2013 Feb 16 doi: 10.1016/j.mito.2013.02.003. PMID: 23419391 Free PMC Article

Brown-Vialetto-Van Laere syndrome.

Sathasivam S
Orphanet J Rare Dis 2008 Apr 17;3:9. doi: 10.1186/1750-1172-3-9. PMID: 18416855 Free PMC Article

Familial Madras motor neuron disease (FMMND): study of 15 families from southern India.

Nalini A, Yamini BK, Gayatri N, Thennarasu K, Gope R
J Neurol Sci 2006 Dec 1;250(1-2):140-6. Epub 2006 Sep 28 doi: 10.1016/j.jns.2006.08.010. PMID: 17010382

Madras motor neuron disease variant, clinical features of seven patients.

Gourie-Devi M, Nalini A
J Neurol Sci 2003 May 15;209(1-2):13-7. doi: 10.1016/s0022-510x(02)00458-6. PMID: 12686396

See all (4)