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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 features

Differential 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 impairment

Charcot-Marie-Tooth neuropathy