MCID: OSL002
MIFTS: 14

O'sullivan-Mcleod Syndrome malady

Neuronal diseases, Rare diseases, Blood diseases categories

Summaries for O'sullivan-Mcleod Syndrome

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45NINDS, 34MalaCards
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NINDS:45 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:
45NINDS, 50Orphanet, 63UMLS, 27ICD10 via Orphanet, 64UMLS 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 45 50
blood group deletion syndrome 63


External Ids:

ICD10 via Orphanet27 G12.8
UMLS via Orphanet64 C2721741

Related Diseases for O'sullivan-Mcleod Syndrome

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Symptoms for O'sullivan-Mcleod Syndrome

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50Orphanet
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Symptoms:

50
  • 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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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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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Sources:
34MalaCards
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MalaCards organs/tissues related to O'sullivan-Mcleod Syndrome:

34
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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53PubMed
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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:
16Gene 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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet