MCID: OSL002
MIFTS: 11

O'sullivan-Mcleod Syndrome malady

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for O'sullivan-Mcleod Syndrome

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Sources:
30ICD10 via Orphanet, 48NINDS, 53Orphanet, 68UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for O'sullivan-Mcleod Syndrome:

Name: O'sullivan-Mcleod Syndrome 48 53

Classifications:



External Ids:

Orphanet53 ORPHA99965
UMLS via Orphanet68 C2721741
ICD10 via Orphanet30 G12.8

Summaries for O'sullivan-Mcleod Syndrome

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NINDS:48 Monomelic amyotrophy (MMA) is characterized by progressive degeneration and loss of motor neurons, the nerve cells in the brain and spinal cord that are responsible for controlling voluntary muscles. It is characterized by weakness and wasting in a single limb, usually an arm and hand rather than a foot and leg. There is no pain associated with MMA. While some physicians contend that mild sensory loss may be associated with this disease, many experts suggest that such symptoms actually indicate a cause other than MMA. MMA occurs in males between the ages of 15 and 25. Onset and progression are slow. MMA is seen most frequently in Asia, particularly in Japan and India; it is much less common in North America. In most cases, the cause is unknown, although there have been a few published reports linking MMA to traumatic or radiation injury. There are also familial forms of MMA. Diagnosis is made by physical exam and medical history. Electromyography (EMG), a special recording technique that detects electrical activity in muscles, shows a loss of the nerve supply, or denervation, in the affected limb; MRI and CT scans may show muscle atrophy. People believed to have MMA should be followed by a neuromuscular disease specialist for a number of months to make certain that no signs of other motor neuron diseases develop.

MalaCards based summary: O'sullivan-Mcleod Syndrome and has symptoms including muscle weakness, abnormality of the upper limb and emg abnormality. Affiliated tissues include spinal cord and brain.

Related Diseases for O'sullivan-Mcleod Syndrome

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Symptoms for O'sullivan-Mcleod Syndrome

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Human phenotypes related to O'sullivan-Mcleod Syndrome:

 63 53 (show all 6)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscle weakness63 hallmark (90%) HP:0001324
2 abnormality of the upper limb63 53 hallmark (90%) Very frequent (99-80%) HP:0002817
3 emg abnormality63 53 hallmark (90%) Very frequent (99-80%) HP:0003457
4 asymmetric growth63 occasional (7.5%) HP:0100555
5 limb muscle weakness53 Very frequent (99-80%)
6 hand muscle weakness53 Very frequent (99-80%)

Drugs & Therapeutics for O'sullivan-Mcleod Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for O'sullivan-Mcleod Syndrome

Genetic Tests for O'sullivan-Mcleod Syndrome

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Anatomical Context for O'sullivan-Mcleod Syndrome

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MalaCards organs/tissues related to O'sullivan-Mcleod Syndrome:

35
Spinal cord, Brain

Animal Models for O'sullivan-Mcleod Syndrome or affiliated genes

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Publications for O'sullivan-Mcleod Syndrome

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Articles related to O'sullivan-Mcleod Syndrome:

idTitleAuthorsYear
1
O'Sullivan-McLeod syndrome: clinical features, neuroradiology and nosology. (25488537)
2014
2
Slowly progressive distal muscular atrophy of the bilateral upper limbs (O'Sullivan-McLeod syndrome) partially alleviated by intravenous immunoglobulin therapy. (17443046)
2007
3
Slowly progressive spinal muscular atrophy of the hands (O'Sullivan-McLeod syndrome): clinical and magnetic resonance imaging presentation. (11041339)
2000

Variations for O'sullivan-Mcleod Syndrome

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Expression for genes affiliated with O'sullivan-Mcleod Syndrome

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Search GEO for disease gene expression data for O'sullivan-Mcleod Syndrome.

Pathways for genes affiliated with O'sullivan-Mcleod Syndrome

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GO Terms for genes affiliated with O'sullivan-Mcleod Syndrome

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Sources for O'sullivan-Mcleod Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet