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O'Sullivan McLeod syndrome is a benign lower motor neuron disorder and a rare variant of monomelic amyotrophy (MA), characterized by an initial unilateral weakness in the intrinsic hand muscles that eventually spreads to the opposite limb (with an asymmetrical distribution) and that has a very slow progression of muscular atrophy over a 20 year period.
Features include very common findings: Abnormal electrical muscle activity (EMG) (emg abnormality), Upper limb muscle weakness, Intrinsic hand muscle atrophy, and Hand muscle weakness; and common findings: Tremor, Fasciculations, EMG: chronic denervation signs, and Atrophy of the spinal cord and others. 12 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Muscles | 5 | Upper limb muscle weakness, Intrinsic hand muscle atrophy, Hand muscle weakness |
Phenotype severity distribution: 4 very common features, 6 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 1:30 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about O'Sullivan-McLeod syndrome
Arms and legs | 3 | Upper limb muscle weakness, Intrinsic hand muscle atrophy, Hand muscle weakness |
Brain and nerves | 3 | Tremor, Fasciculations, Pain |
Lab test results | 2 | Abnormal electrical muscle activity (EMG) (emg abnormality), Elevated antibody levels (increased circulating immunoglobulin concentration) |