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Charcot–Marie–Tooth disease (CMT) is a hereditary motor and sensory neuropathy of the peripheral nervous system characterized by progressive loss of muscle tissue and touch sensation across various parts of the body. This disease is the most commonly inherited neurological disorder, affecting about one in 2,500 people. It is named after those who classically described it: the Frenchman Jean-Martin Charcot (1825–1893), his pupil Pierre Marie (1853–1940), and the Briton Howard Henry Tooth (1856–1925).
Cerebral palsy (CP) is a group of movement disorders that appear in early childhood. Signs and symptoms vary among people and over time, but include poor coordination, stiff muscles, weak muscles, and tremors. There may be problems with sensation, vision, hearing, and speaking. Often, babies with cerebral palsy do not roll over, sit, crawl or walk as early as other children of their age. Other symptoms include seizures and problems with thinking or reasoning, each of which occur in about one-third of people with CP. While symptoms may get more noticeable over the first few years of life, underlying problems do not worsen over time.
Mucopolysaccharidoses are a group of metabolic disorders caused by the absence or malfunctioning of lysosomal enzymes needed to break down molecules called glycosaminoglycans (GAGs). These long chains of sugar carbohydrates occur within the cells that help build bone, cartilage, tendons, corneas, skin and connective tissue. GAGs are also found in the fluids that lubricate joints.
Hypotonia is a state of low muscle tone, often involving reduced muscle strength. Hypotonia is not a specific medical disorder, but a potential manifestation of many different diseases and disorders that affect motor nerve control by the brain or muscle strength. Hypotonia is a lack of resistance to passive movement, whereas muscle weakness results in impaired active movement. Central hypotonia originates from the central nervous system, while peripheral hypotonia is related to problems within the spinal cord, peripheral nerves and/or skeletal muscles. Severe hypotonia in infancy is commonly known as floppy baby syndrome. Recognizing hypotonia, even in early infancy, is usually relatively straightforward, but diagnosing the underlying cause can be difficult and often unsuccessful. The long-term effects of hypotonia on a child's development and later life depend primarily on the severity of the muscle weakness and the nature of the cause. Some disorders have a specific treatment but the principal treatment for most hypotonia of idiopathic or neurologic cause is physical therapy and/or occupational therapy for remediation.
Normal-pressure hydrocephalus (NPH), also called malresorptive hydrocephalus, is a form of communicating hydrocephalus in which excess cerebrospinal fluid (CSF) occurs in the ventricles, and with normal or slightly elevated cerebrospinal fluid pressure. As the fluid builds up, it causes the ventricles to enlarge and the pressure inside the head to increase, compressing surrounding brain tissue and leading to neurological complications. The disease presents in a classic triad of symptoms, which are memory impairment, urinary frequency, and balance problems/gait deviations. The disease was first described by Salomón Hakim and Adams in 1965.
Ataxia–telangiectasia, also referred to as ataxia–telangiectasia syndrome or Louis–Bar syndrome, is a rare, neurodegenerative, autosomal recessive disease causing severe disability. Ataxia refers to poor coordination and telangiectasia to small dilated blood vessels, both of which are hallmarks of the disease. A–T affects many parts of the body:
A limp is a type of asymmetric abnormality of the gait. Limping may be caused by pain, weakness, neuromuscular imbalance, or a skeletal deformity. The most common underlying cause of a painful limp is physical trauma; however, in the absence of trauma, other serious causes, such as septic arthritis or slipped capital femoral epiphysis, may be present. The diagnostic approach involves ruling out potentially serious causes via the use of X-rays, blood tests, and sometimes joint aspiration. Initial treatment involves pain management. A limp is the presenting problem in about 4% of children who visit hospital emergency departments.
Spondylolisthesis is the displacement of one spinal vertebra compared to another. While some medical dictionaries define spondylolisthesis specifically as the forward or anterior displacement of a vertebra over the vertebra inferior to it, it is often defined in medical textbooks as displacement in any direction. Spondylolisthesis is graded based upon the degree of slippage of one vertebral body relative to the subsequent adjacent vertebral body. Spondylolisthesis is classified as one of the six major etiologies: degenerative, traumatic, dysplastic, isthmic, pathologic, or post-surgical. Spondylolisthesis most commonly occurs in the lumbar spine, primarily at the L5-S1 level, with the L5 vertebral body anteriorly translating over the S1 vertebral body.
Foot drop is a gait abnormality in which the dropping of the forefoot happens due to weakness, irritation or damage to the deep fibular nerve, including the sciatic nerve, or paralysis of the muscles in the anterior portion of the lower leg. It is usually a symptom of a greater problem, not a disease in itself. Foot drop is characterized by inability or impaired ability to raise the toes or raise the foot from the ankle (dorsiflexion). Foot drop may be temporary or permanent, depending on the extent of muscle weakness or paralysis and it can occur in one or both feet. In walking, the raised leg is slightly bent at the knee to prevent the foot from dragging along the ground.
A selective dorsal rhizotomy (SDR), also known as a rhizotomy, dorsal rhizotomy, or a selective posterior rhizotomy, is a neurosurgical procedure that selectively cut problematic nerve roots of the spinal cord. This procedure has been well-established in the literature as a surgical intervention and is used to relieve negative symptoms of neuromuscular conditions such as spastic diplegia and other forms of spastic cerebral palsy. The specific sensory nerves inducing spasticity are identified using electromyographic (EMG) stimulation and graded on a scale of 1 (mild) to 4. Abnormal nerve responses are isolated and cut, thereby reducing symptoms of spasticity.
Gait training or gait rehabilitation is the act of learning how to walk, either as a child, or, more frequently, after sustaining an injury or disability. Normal human gait is a complex process, which happens due to co-ordinated movements of the whole of the body, requiring the whole of Central Nervous System - the brain and spinal cord, to function properly. Any disease process affecting the brain, spinal cord, peripheral nerves emerging from them supplying the muscles, or the muscles itself can cause deviations of gait. The process of relearning how to walk is generally facilitated by Physiatrists or Rehabilitation medicine (PM&R) consultants, physical therapists or physiotherapists, along with occupational therapists and other allied specialists. The most common cause for gait impairment is due to an injury of one or both legs. Gait training is not simply re-educating a patient on how to walk, but also includes an initial assessment of their gait cycle - Gait analysis, creation of a plan to address the problem, as well as teaching the patient on how to walk on different surfaces. Assistive devices and splints (orthosis) are often used in gait training, especially with those who have had surgery or an injury on their legs, but also with those who have balance or strength impairments as well.
A GALS screen is an examination used by doctors and other healthcare professionals to detect locomotor abnormalities and functional disability relating to gait, arms, legs and the spine.
An antalgic gait is a gait that develops as a way to avoid pain while walking. It is a form of gait abnormality where the stance phase of gait is abnormally shortened relative to the swing phase. It is a good indication of weight-bearing pain.
A neurological disorder is any disorder of the nervous system. Structural, biochemical or electrical abnormalities in the brain, spinal cord or other nerves can result in a range of symptoms. Examples of symptoms include paralysis, muscle weakness, poor coordination, loss of sensation, seizures, confusion, pain and altered levels of consciousness. There are many recognized neurological disorders, some relatively common, but many rare. They may be assessed by neurological examination, and studied and treated within the specialties of neurology and clinical neuropsychology.
Signs and symptoms of Parkinson's disease are varied. Parkinson's disease affects movement, producing motor symptoms. Non-motor symptoms, which include dysautonomia, cognitive and neurobehavioral problems, and sensory and sleep difficulties, are also common. When other diseases mimic Parkinson's disease, they are categorized as parkinsonism.
Orthotics is a medical specialty that focuses on the design and application of orthoses, sometimes known as braces or calipers. An orthosis is "an externally applied device used to influence the structural and functional characteristics of the neuromuscular and skeletal systems." Orthotists are professionals who specialize in designing these braces.
Parkinsonian gait is the type of gait exhibited by patients with Parkinson's disease (PD). It is often described by people with Parkinson's as feeling like being stuck in place, when initiating a step or turning, and can increase the risk of falling. This disorder is caused by a deficiency of dopamine in the basal ganglia circuit leading to motor deficits. Gait is one of the most affected motor characteristics of this disorder although symptoms of Parkinson's disease are varied.
Gait deviations are nominally referred to as any variation of standard human gait, typically manifesting as a coping mechanism in response to an anatomical impairment. Lower-limb amputees are unable to maintain the characteristic walking patterns of an able-bodied individual due to the removal of some portion of the impaired leg. Without the anatomical structure and neuromechanical control of the removed leg segment, amputees must use alternative compensatory strategies to walk efficiently. Prosthetic limbs provide support to the user and more advanced models attempt to mimic the function of the missing anatomy, including biomechanically controlled ankle and knee joints. However, amputees still display quantifiable differences in many measures of ambulation when compared to able-bodied individuals. Several common observations are whole-body movements, slower and wider steps, shorter strides, and increased sway.
Age-related mobility disability is a self-reported inability to walk due to impairments, limited mobility, dexterity or stamina. It has been found mostly in older adults with decreased strength in lower extremities.
A central nervous system tumor is an abnormal growth of cells from the tissues of the brain or spinal cord. CNS tumor is a generic term encompassing over 120 distinct tumor types. Common symptoms of CNS tumors include vomiting, headache, changes in vision, nausea, and seizures. A CNS tumor can be detected and classified via neurological examination, medical imaging, such as x-ray imaging, magnetic resonance imaging (MRI) or computed tomography (CT), or after analysis of a biopsy.
References
- ↑ Harrison's Principles of Internal Medicine, 16th ed., Ch. 346, Approach to the Patient with Neurologic Disease
- ↑ Verghese, Joe; Ambrose, Anne F.; Lipton, Richard B.; Wang, Cuiling (2010-03-01). "Neurological gait abnormalities and risk of falls in older adults". Journal of Neurology. 257 (3): 392–398. doi:10.1007/s00415-009-5332-y. ISSN 0340-5354. PMC 2838981 . PMID 19784714.
- ↑ "Gait Abnormality Coding Checklist by Jun Mapili, PT, MA13212503469Ed". Selmanholman.com. Archived from the original on 2014-07-14. Retrieved 2014-06-10.
- ↑ ICD-9-cm Chrisenders Archived May 21, 2005, at the Wayback Machine
