Document Type

Case Report


Kennedy disease (KD) is also known as spino bulbar muscular atrophy caused by a tandem C-A-G tri-nucleotide repeat. It is an adult-onset X-linked recessive inherited neurodegenerative disease involving lower motor neuron damage with predominance of facial muscles. It is often accompanied with androgen sensitivity, sensory nerve damage and endocrinal involvement. It has similar confusing symptoms and is often mis-diagnosed with most of the neuromuscular diseases like POEMS syndrome, myasthenia gravis, mitochondrial myopathy and amyotrophic lateral sclerosis. Hence clinical differentiation is important to prevent adverse outcomes and un-necessary treatment. Here we describe a rare case of a 46 year old Pakistani male who presented to us with progressive weakness and tingling of the limbs, bulbar symptoms, postural tremors and painful recurrent ulceration of the feet. Based on family history, clinical and electro diagnostic study he was diagnosed to have Kennedy disease. To the best of our knowledge, it is the first case report of Kennedy disease from Pakistan.

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