MCID: OSL002
MIFTS: 13

O'sullivan-Mcleod Syndrome

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for O'sullivan-Mcleod Syndrome

MalaCards integrated aliases for O'sullivan-Mcleod Syndrome:

Name: O'sullivan-Mcleod Syndrome 50 55

Classifications:

Orphanet: 55  
Rare neurological diseases


External Ids:

Orphanet 55 ORPHA99965
UMLS via Orphanet 70 C2721741
ICD10 via Orphanet 33 G12.8
SNOMED-CT via HPO 65 274523007 713514005 298283006

Summaries for O'sullivan-Mcleod Syndrome

NINDS : 50 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 emg abnormality, limb muscle weakness and hand muscle weakness. Affiliated tissues include spinal cord and brain.

Related Diseases for O'sullivan-Mcleod Syndrome

Symptoms & Phenotypes for O'sullivan-Mcleod Syndrome

Human phenotypes related to O'sullivan-Mcleod Syndrome:

55 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 emg abnormality 55 31 hallmark (90%) Very frequent (99-80%) HP:0003457
2 limb muscle weakness 55 31 hallmark (90%) Very frequent (99-80%) HP:0003690
3 hand muscle weakness 55 31 hallmark (90%) Very frequent (99-80%) HP:0030237
4 abnormality of the upper limb 55 Very frequent (99-80%)

Drugs & Therapeutics for O'sullivan-Mcleod Syndrome

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

Genetic Tests for O'sullivan-Mcleod Syndrome

Anatomical Context for O'sullivan-Mcleod Syndrome

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

38
Spinal Cord, Brain

Publications for O'sullivan-Mcleod Syndrome

Articles related to O'sullivan-Mcleod Syndrome:

# Title Authors Year
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

Expression for O'sullivan-Mcleod Syndrome

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

Pathways for O'sullivan-Mcleod Syndrome

GO Terms for O'sullivan-Mcleod Syndrome

Sources for O'sullivan-Mcleod Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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