Kennedy’s disease is an inherited genetic neuromuscular condition affecting males and is one of the group of diseases known as spinal muscular atrophy. It is caused by a genetic mutation on the X chromosome which is passed down by the mother. Females are usually only ever carriers of the defective gene although some rarely present with very mild symptoms. Onset of symptoms usually occurs between the ages of 20 and 40 although in some cases it may be earlier or later in life. Typically the person will gradually notice weakness, tremor, and muscle twitching which progressively begins to affect function. It can cause weakness of the tongue and mouth muscles affecting speech and swallowing.
Diagnosis of Kennedy’s disease is usually made by a neurologist following a thorough examination and history. Tests such as electromyography, nerve conduction studies, genetic testing and MRI scans may be used to confirm the diagnosis and exclude other causes.
Kennedy’s disease is a progressive condition that can impact on a person’s function and mobility. Physiotherapy treatment can help to maximise a person’s independence for as long as possible and help anticipate problems before they arise. Physiotherapy can help teach skills for self- management of the condition to help people feel more in control.
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