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Table 3 Differential diagnosis of KD depending on the presentation and predominant signs and symptoms

From: The French national protocol for Kennedy’s disease (SBMA): consensus diagnostic and management recommendations

Clinical featuresDifferential diagnosis
Isolated damage to the peripheral motor neuron- Other causes of spinal amyotrophy (particularly related to SMN1 mutation),
- Spinal motor forms of Charcot-Marie-Tooth neuropathy
- Progressive muscular atrophy
- Post-polio syndrome
Cramps and fasciculations-"Benign” cramps-fasciculations syndrome
- Isaacs syndrome
Progressive bulbar involvement:- Myasthenia gravis
- Congenital myopathies
- Oculopharyngeal muscular dystrophy;
Proximal motor deficit associated with a rise in CPK- Progressive muscular dystrophies
- Congenital myopathies
- Muscular canalopathies
- Inflammatory or metabolic myopathies;
Amyotrophic motor deficit associated with sensory impairmentCharcot-Marie-Tooth neuropathy