Types of physical difficultyThe Physical Difficulties team offer advice and support to a wide range of physical difficulties experienced by children and young people. We have provided information about some of the conditions and links to other organisations, both locally and nationally, that may also be of help. Click the condition name to find out more.
Cerebral palsy is a general term describing a group of chronic non-progressive neurological symptoms which cause impaired control of movement and which are evident in the first few years of life, usually before age three. The disorders are induced by damage or faulty development of the motor areas in the brain, disrupting the patientís ability to control movement and posture. Symptoms of cerebral palsy include difficulty with fine motor tasks such as writing, poor balance and walking, and involuntary movements. The exact combination of symptoms differs from patient to patient and may vary over time. Some patients also have seizures and intellectual disability, however, this is not always the case. Babies with cerebral palsy are frequently slower than average in achieving developmental milestones like learning to roll over, sit, crawl, smile or walk. Cerebral palsy is usually thought of as congenital or perinatal, however, it can also be aquired after birth. Many of the causes of cerebral palsy that have been identified through research are preventable or even treatable: head injury, Rh incompatibility, jaundice and rubella (German measles).
Muscular dystrophy refers to a group of genetic, hereditary muscle diseases that cause progressive muscle weakness. Muscular dystophies are characterized by progressive skeletal muscle weakness, defects in muscle proteins, and the death of muscle cells and tissue. Nine diseases; Duchenne, Becker, limb girdle, congenital, facioscapulohumeral, myotonic, oculopharyngeal, distal and Emery-Dreifuss are always classified as muscular dystrophy but there are more than 100 diseases in total with similarities to muscular dystrophy. Most types of (MD) are multi system disorders with manifestations in body systems including the heart, gastrointestinal and nervous systems, endochrine glands, skin, eyes and other organs. The best known type, Duchenne muscular dystrophy (DMD), is inherited in an X-linked recessive pattern, meaning that the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes, and is thus considered sex-linked. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females _who have two X chromosomes), a mutation must generally be present in both copies of the gene to cause the disorder (relatively rare exceptions, manifesting carriers, do occur due to dosage compensation/ X-inactivation). Males are therefore affected by X-linked recessive disorders much more often than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. In about two thirds of DMD cases, an affected male inherits the mutation from a mother who carries one altered copy of DMD gene. The one third of cases probably result from new mutations in the gene. Females who carry one copy of a DMD mutation may have some signs and symptoms related to the condition (such as muscle weakness and cramping), but these are typically milder than the signs and symptoms seen in affected males. Duchenne muscular dystrophy and Becker's muscular dystrophy are caused by mutations of the gene for the dystrophin protein and lead to an overabundance of the enzyme creatine kinase. The dystrophin gene is the largest gene in humans.
Achondraplasia is one of the most common forms of short limb dwarfism. It is a bone growth disorder that affects one in every 15000 to 40000 births. Achondroplasia is called an autosomal dominant condition. A person with Achondroplasia is smaller than average, the average height in Achondroplasia is about 4 ft for both men and women. The life span and cognitive function of a person with Achondroplasia is not affected.
Spinal Muscular Atrophy
SMA refers to a group of diseases which affect the motor neurons of the spinal cord and brain stem. These critically important cells are responsible for suppling electrical and chemical messages to muscle cells. Without proper input from the motor neurons, muscle cells cannot function properly. The muscle cells will, therefore, become much smaller (atrophy) and will produce symptoms of muscle weakness. There are dozens of diseases which affect motor neuron.
Arthrogryposis multiplex congenita put simply means curved joints in several areas of the body at birth. Anything that prevents normal movement of a baby in the womb will lead to contracture, where a joint does not have a full range of movement. The earlier in development, and longer there is a limitation of movement the more severe the contracture(s) is likely to be at birth. Arthogryposis is not a problem in the formation of the joint or limb, but is associated with the development of extra connective tissue around the joint and occurs after eight to 10 weeks in the pregnancy. This extra connective tissue fixes a joint in place and severley limits its movement leading to the tendons around the affected joint not to stretch to their normal length making joint movement after birth even more difficult. However, when a limitation of movement occurs for several months, there also tends to be a lack of growh in a limb that can make the severity of the contracture even more intense.