MCID: OSL002
MIFTS: 13

O'sullivan-Mcleod Syndrome malady

Neuronal diseases, Rare diseases categories

Aliases & Classifications for O'sullivan-Mcleod Syndrome

About this section
Sources:
42NINDS, 47Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

O'sullivan-Mcleod Syndrome, Aliases & Descriptions:

Name: O'sullivan-Mcleod Syndrome 42 47


Classifications:

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


External Ids:

Orphanet47 99965
ICD10 via Orphanet26 G12.8
UMLS via Orphanet61 C2721741

Summaries for O'sullivan-Mcleod Syndrome

About this section


NINDS:42 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 brain and spinal cord.

Related Diseases for O'sullivan-Mcleod Syndrome

About this section

Symptoms for O'sullivan-Mcleod Syndrome

About this section

Symptoms:

 47
  • upper limb segmental anomalies
  • motor deficit/trouble
  • muscle weakness/flaccidity
  • abnormal emg/electromyogram/electropmyography
  • upper limb asymmetry/hemiatrophy/hemihypertrophy

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

About this section

Drug clinical trials:

Search ClinicalTrials for O'sullivan-Mcleod Syndrome

Search NIH Clinical Center for O'sullivan-Mcleod Syndrome

Genetic Tests for O'sullivan-Mcleod Syndrome

About this section

Anatomical Context for O'sullivan-Mcleod Syndrome

About this section

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

31
Brain, Spinal cord

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

About this section

Publications for O'sullivan-Mcleod Syndrome

About this section

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

About this section

Expression for genes affiliated with O'sullivan-Mcleod Syndrome

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

Pathways for genes affiliated with O'sullivan-Mcleod Syndrome

About this section

Compounds for genes affiliated with O'sullivan-Mcleod Syndrome

About this section

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

About this section

Products for genes affiliated with O'sullivan-Mcleod Syndrome

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for O'sullivan-Mcleod Syndrome

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet