Phenotypes associated with the disease O'Sullivan-McLeod syndrome (ORPHA:99965):
- EMG abnormality (HP:0003457): Abnormal results of investigations using electromyography (EMG). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:99965)
- Upper limb muscle weakness (HP:0003484): Weakness of the muscles of the arms. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:99965)
- Intrinsic hand muscle atrophy (HP:0008954): Atrophy of the intrinsic muscle groups of the hand, comprising the thenar and hypothenar muscles; the interossei muscles; and the lumbrical muscles. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:99965)
- Hand muscle weakness (HP:0030237): Reduced strength of the musculature of the hand. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:99965)
- Tremor (HP:0001337): An unintentional, oscillating to-and-fro muscle movement about a joint axis. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99965)
- Fasciculations (HP:0002380): Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99965)
- EMG: chronic denervation signs (HP:0003444): Evidence of chronic denervation on electromyography. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99965)
- Atrophy of the spinal cord (HP:0006827). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99965)
- Pain (HP:0012531): An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99965)
- Cold paresis (HP:0031372): Increased muscle weakness upon exposure to cold temperatures. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99965)
- Increased total eosinophil count (HP:0001880): Increased count of eosinophils in the blood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99965)
- Increased circulating immunoglobulin concentration (HP:0010702): An increased level of gamma globulin (immunoglobulin) in the blood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99965)
Not associated with this disease:
- Somatic sensory dysfunction (HP:0003474): An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing. Evidence: TAS. (ORPHA:99965)
- Hyperintensity of MRI T2 signal of the spinal cord (HP:0040272): A region of high intensity (brightness) observed upon magnetic resonance imaging (MRI) scans of the spinal cord. Evidence: TAS. (ORPHA:99965)