MCID: OSL002
MIFTS: 14

O'sullivan-Mcleod Syndrome malady

Neuronal diseases, Rare diseases, Blood diseases categories
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Summaries for O'sullivan-Mcleod Syndrome

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Sources:
44NINDS, 33MalaCards
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NINDS:44 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: O'sullivan-Mcleod Syndrome, is also known as blood group deletion syndrome, and has symptoms including upper limb segmental anomalies, motor deficit/trouble and muscle weakness/flaccidity. Affiliated tissues include brain and spinal cord.

Aliases & Classifications for O'sullivan-Mcleod Syndrome

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Sources:
44NINDS, 49Orphanet, 62UMLS, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Neuronal diseases, Blood diseases


Aliases & Descriptions:

o'sullivan-mcleod syndrome 44 49
blood group deletion syndrome 62


External Ids:

ICD10 via Orphanet26 G12.8
UMLS via Orphanet63 C2721741

Related Diseases for O'sullivan-Mcleod Syndrome

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Symptoms for O'sullivan-Mcleod Syndrome

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49Orphanet
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Symptoms:

49
  • upper limb segmental anomalies
  • motor deficit/trouble
  • muscle weakness/flaccidity
  • abnormal emg/electromyogram/electropmyography
  • upper limb asymmetry/hemiatrophy/hemihypertrophy

Drugs & Therapeutics for O'sullivan-Mcleod Syndrome

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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Genetic Tests for O'sullivan-Mcleod Syndrome

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Anatomical Context for O'sullivan-Mcleod Syndrome

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33MalaCards
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MalaCards organs/tissues related to O'sullivan-Mcleod Syndrome:

33
Brain, Spinal cord

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

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Publications for O'sullivan-Mcleod Syndrome

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52PubMed
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Articles related to O'sullivan-Mcleod Syndrome:

idTitleAuthorsYear
1
Slowly progressive distal muscular atrophy of the bilateral upper limbs (O'Sullivan-McLeod syndrome) partially alleviated by intravenous immunoglobulin therapy. (17443046)
2007
2
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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Sources:
15Gene Expression Omnibus DataSets
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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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Compounds 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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Products for genes affiliated with O'sullivan-Mcleod Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for O'sullivan-Mcleod Syndrome

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet