Friedreich's ataxiaFriedreich's ataxia (FRDA or FA) is an autosomal-recessive genetic disease that causes difficulty walking, a loss of coordination in the arms and legs, and impaired speech that worsens over time. Symptoms generally start between 5 and 20 years of age. Many develop hypertrophic cardiomyopathy and require a mobility aid such as a cane, walker, or wheelchair in their teens. As the disease progresses, some affected people lose their sight and hearing. Other complications may include scoliosis and diabetes mellitus.
DysmetriaDysmetria (wrong length) is a lack of coordination of movement typified by the undershoot or overshoot of intended position with the hand, arm, leg, or eye. It is a type of ataxia. It can also include an inability to judge distance or scale. Hypermetria and hypometria are, respectively, overshooting and undershooting the intended position. Dysmetria is often found in individuals with multiple sclerosis (MS), amyotrophic lateral sclerosis (ALS), and persons who have had tumors or strokes.
DysdiadochokinesiaDysdiadochokinesia (DDK) is the medical term for an impaired ability to perform rapid, alternating movements (i.e., diadochokinesia). Complete inability is called adiadochokinesia. The term is from Greek δυς dys "bad", διάδοχος diadochos "succeeding", κίνησις kinesis "movement". Abnormalities in diadochokinesia can be seen in the upper extremity, lower extremity and in speech. The deficits become visible in the rate of alternation, the completeness of the sequence, and in the variation in amplitude involving both motor coordination and sequencing.
Cerebellar vermisThe cerebellar vermis (from Latin vermis, "worm") is located in the medial, cortico-nuclear zone of the cerebellum, which is in the posterior fossa of the cranium. The primary fissure in the vermis curves ventrolaterally to the superior surface of the cerebellum, dividing it into anterior and posterior lobes. Functionally, the vermis is associated with bodily posture and locomotion. The vermis is included within the spinocerebellum and receives somatic sensory input from the head and proximal body parts via ascending spinal pathways.
Balance disorderA balance disorder is a disturbance that causes an individual to feel unsteady, for example when standing or walking. It may be accompanied by feelings of giddiness, or wooziness, or having a sensation of movement, spinning, or floating. Balance is the result of several body systems working together: the visual system (eyes), vestibular system (ears) and proprioception (the body's sense of where it is in space). Degeneration or loss of function in any of these systems can lead to balance deficits.
Romberg's testRomberg's test, Romberg's sign, or the Romberg maneuver is a test used in an exam of neurological function for balance. The exam is based on the premise that a person requires at least two of the three following senses to maintain balance while standing: proprioception (the ability to know one's body position in space); vestibular function (the ability to know one's head position in space); and vision (which can be used to monitor and adjust for changes in body position).
Fragile X syndromeFragile X syndrome (FXS) is a genetic disorder characterized by mild-to-moderate intellectual disability. The average IQ in males with FXS is under 55, while about two thirds of affected females are intellectually disabled. Physical features may include a long and narrow face, large ears, flexible fingers, and large testicles. About a third of those affected have features of autism such as problems with social interactions and delayed speech. Hyperactivity is common, and seizures occur in about 10%.
Thiamine deficiencyThiamine deficiency is a medical condition of low levels of thiamine (Vitamin B1). A severe and chronic form is known as beriberi. The two main types in adults are wet beriberi and dry beriberi. Wet beriberi affects the cardiovascular system, resulting in a fast heart rate, shortness of breath, and leg swelling. Dry beriberi affects the nervous system, resulting in numbness of the hands and feet, confusion, trouble moving the legs, and pain. A form with loss of appetite and constipation may also occur.
Balance (ability)Balance in biomechanics, is an ability to maintain the line of gravity (vertical line from centre of mass) of a body within the base of support with minimal postural sway. Sway is the horizontal movement of the centre of gravity even when a person is standing still. A certain amount of sway is essential and inevitable due to small perturbations within the body (e.g., breathing, shifting body weight from one foot to the other or from forefoot to rearfoot) or from external triggers (e.g., visual distortions, floor translations).
Gait abnormalityGait abnormality is a deviation from normal walking (gait). Watching a patient walk is an important part of the neurological examination. Normal gait requires that many systems, including strength, sensation and coordination, function in an integrated fashion. Many common problems in the nervous system and musculoskeletal system will show up in the way a person walks. Patients with musculoskeletal pain, weakness or limited range of motion often present conditions such as Trendelenburg's sign, limping, myopathic gait and antalgic gait.
