Kennedy's Disease (KD) Study and Register

Background

KD was first described as one disease in 9 males in 2 families (Kennedy et al., 1968). Before this, KD was not distinguished from adult-onset forms of spinal muscular atrophy. Kennedy described the disorder as linked to the X chromosome.

The earliest clinical features are:

• androgen insensitivity
• postural hand tremor
• muscle pains with development of motor neuropathy, bulbar signs and symptoms later
• insignificant loss of sensation in the extremities (e.g. fingers)

Patients with KD also have hormonal and metabolic problems besides the neurological deficits.

The hormonal and metabolic problems are not well understood and their relationship to the genotype is controversial.

Primary objective

To create a national register of patients with KD to facilitate research into the disorder.

In particular, we aim to:

• systematically characterise diagnostic features of the disorder and their rate of progression
• estimate the incidence and prevalence of KD in the UK
• assess the patients' experience with regard to specialist care
• establish best practice guidelines for the diagnosis and management of KD

The study proposes to:

• interview and examine patients
• try to gain a time course of the development of individual symptoms and signs,
• perform genetic confirmation of the diagnosis if not already done by the referring hospital
• assess creatine kinase and hormonal function from blood samples
• obtain pedigrees for the patient's families

We hope this KD register will provide evidence of the relationship between phenotype and genotype.

Over time, the register will help establish relationships with disease severity and prognosis.