CONDITION TO BE TREATED. Motor neurone disease (MND) is characterised by progressive degeneration of the motor neurones of the brain, brain stem or spinal cord. Depending on the site of the lesions, characteristic signs may include spasticity, muscle stiffness, brisk or diminished reflexes, muscle wasting and fasciculation, and both flaccid and/or spastic weakness. It has a median survival of 2-5 years. A multidisciplinary team staffs the motor neurone disease clinic at QMC. AREAS OF RESPONSIBILITY Specialist’s Roles and Responsibilities
CONDITION TO BE TREATED. The aim of testosterone replacement therapy is to mimic the normal cadence of puberty and match requirements at different stages of pubertal development in patients with Hypogonadism and CDGP. Testosterone replacement therapy is used to induce development of secondary sexual characteristics and promote linear growth, normal accrual of muscle mass and bone density while avoiding premature epiphyseal plate closure. Testosterone replacement therapy is usually started from the age of 12-14 years and the dose is reviewed 6 monthly increasing progressively over 24-36 months until the adult maintenance dose is reached. The maintenance dose of testosterone replacement is continued into adult life. In the case of CDGP the testosterone is stopped when there is established endogenous puberty, as assessed by the specialist. All boys with delayed puberty (absence of signs of secondary sexual development i.e. testicular volume less than 4 mL at 14 years of age) should be referred to paediatric endocrinology for assessment. CDGP is the most common cause but it can be extremely difficult in the early stages of puberty to differentiate CDGP from Hypogonadism. Boys with CDGP/Hypogonadism may manifest with psychological distress because of their lack of growth and pubertal progression, which can affect their school performance, social relationships and can affect their psychological wellbeing. A course of testosterone treatment should be offered in order to enhance growth rate and expedite the features of puberty. In those with CDGP who receive testosterone treatment, the intervention is well tolerated, highly effective and regarded as a standard therapeutic option. Monitoring of growth and pubertal status is paramount in boys who receive testosterone replacement treatment. This is done by the paediatric endocrine specialist team every 6 months. NATIONAL/ LOCAL GUIDANCE The British Society for Paediatric Endocrinology and Diabetes (BSPED) recommend several licensed preparations of testosterone for use off-label in children, including injectable, oral capsule and testosterone cream/gel. Other licenced testosterone preparations that are available (transdermal gel, patch and implant) are not recommended by BSPED for use in children.
CONDITION TO BE TREATED. Unlike the pulsed release of insulin from the pancreas, the production of dopamine in the brain is near-constant throughout 24 hours. The principal aim of treatment in Xxxxxxxxx’x disease (PD) is therefore to provide a near-constant supply of dopamine or a dopamine agonist to the brain. The majority of patients are treated with a dopamine agonist first - either ropinirole, pramipexole or rotigotine. Ropinirole and pramipexole are available in prolonged release formulations and rotigotine is a patch. All usually give quite smooth symptom control, but all three can cause significant side effects including compulsive/addictive behaviours such as gambling, compulsive shopping and hypersexuality (which patients rarely recognise as side effects and do not report unless specifically asked). Within 1-5 years most patients also need to take a levodopa preparation (Madopar (co-beneldopa) or Sinemet (co-careldopa)). They may also require supplementary drugs to try and smooth out the delivery of levodopa to the brain (using a Catechol- O-Methyltransferase (COMT) inhibitor such as entacapone which is also available in a combined tablet with levodopa called Stalevo or Sastravi) or to reduce the breakdown of dopamine within the brain [using MAO-B inhibitors such as selegiline or rasagiline]. At night time patients may need slow release levodopa preparations and in the morning they may need dispersible madopar which releases levodopa more quickly. They may need to time when they take levodopa preparations so as to avoid meals with a heavy protein load. If they develop involuntary movements (dyskinesias) these may respond to amantadine or to changes in the size and timing of their levodopa doses. Common additional problems include dementia (which usually merits a referral to old age psychiatry) and various sleep disorders (some of which respond to clonazepam or melatonin). Apomorphine is used either as an intermittent injection to rescue patients from unpredictable off periods (when they can't move) or as a continuous infusion to try and restore smooth brain agonist levels and hence smooth symptom control when all other approaches have failed. In select patients deep brain stimulation (via electrodes in the subthalamic nucleus) may obviate the need for high doses of drugs in patients with advanced disease, again restoring some degree of therapeutic calm. Decisions about which drug(s) should be used and when will usually be made in secondary care, with advice to primary car...
CONDITION TO BE TREATED. The aim of testosterone replacement therapy is to mimic the normal cadence of puberty and match requirements at different stages of pubertal development in patients with Hypogonadism and CDGP. Testosterone replacement therapy is used to induce development of secondary sexual characteristics and promote linear growth, normal accrual of muscle mass and bone density while avoiding premature epiphyseal plate closure. Testosterone replacement therapy is usually started from the age of 12-14 years and the dose is reviewed 6 monthly increasing progressively over 24-36 months until the adult maintenance dose is
