MCID: OSL002
MIFTS: 12

O'sullivan-Mcleod Syndrome malady

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for O'sullivan-Mcleod Syndrome

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Sources:
47NINDS, 52Orphanet, 29ICD10 via Orphanet, 67UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for O'sullivan-Mcleod Syndrome:

Name: O'sullivan-Mcleod Syndrome 47 52

Classifications:



External Ids:

Orphanet52 ORPHA99965
ICD10 via Orphanet29 G12.8
UMLS via Orphanet67 C2721741

Summaries for O'sullivan-Mcleod Syndrome

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NINDS:47 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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Symptoms:

 52
  • abnormality of the upper limb
  • emg abnormality
  • limb muscle weakness
  • hand muscle weakness

HPO human phenotypes related to O'sullivan-Mcleod Syndrome:

id Description Frequency HPO Source Accession
1 muscle weakness hallmark (90%) HP:0001324
2 abnormality of the upper limb hallmark (90%) HP:0002817
3 emg abnormality hallmark (90%) HP:0003457
4 asymmetric growth occasional (7.5%) HP:0100555

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:

34
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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet