X-linked Dystonia Parkinsonism
   HOME
*





X-linked Dystonia Parkinsonism
X-linked dystonia parkinsonism (XDP), also known as Lubag Syndrome or X-linked Dystonia of Panay, is a rare x-linked progressive movement disorder with high penetrance found almost exclusively in males from Panay, Philippines. It is characterized by dystonic movements first typically occurring in the 3rd and 4th decade of life. The dystonic movements often either coexist or develop into parkinsonism within 10 years of disease onset. Symptoms and signs Symptoms typically present in the 3rd or 4th decade of life, but have been seen as early as the age of 14. It presents with torsion dystonia, particularly when presenting at a younger age, which then progresses to parkinsonism with or without ongoing dystonia. Often the two symptoms coexist. The parkinsonian features of x-linked dystonia parkinsonism include festinating gait, bradykinesia, blepharospasm, and postural instability. It often lacks a resting tremor, helping to differentiate it from Parkinson's disease. Genetics X-linked ...
[...More Info...]      
[...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]  


picture info

Panay
Panay is the sixth-largest and fourth-most populous island in the Philippines, with a total land area of and has a total population of 4,542,926 as of 2020 census. Panay comprises 4.4 percent of the entire population of the country. The City of Iloilo is its largest settlement with a total population of 457,626 inhabitants as of 2020 census. Panay is a triangular island, located in the western part of the Visayas. It is about across. It is divided into four Provinces of the Philippines, provinces: Aklan, Antique (province), Antique, Capiz and Iloilo, all in the Western Visayas Regions of the Philippines, Region. Just closely off the mid-southeastern coast lies the island-province of Guimaras. It is located southeast of the island of Mindoro and northwest of Negros Island, Negros across the Guimaras Strait. To the north and northeast is the Sibuyan Sea, Jintotolo Channel and the island-provinces of Romblon and Masbate; to the west and southwest is the Sulu Sea and the Palawan a ...
[...More Info...]      
[...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]  


picture info

Philippines
The Philippines (; fil, Pilipinas, links=no), officially the Republic of the Philippines ( fil, Republika ng Pilipinas, links=no), * bik, Republika kan Filipinas * ceb, Republika sa Pilipinas * cbk, República de Filipinas * hil, Republika sang Filipinas * ibg, Republika nat Filipinas * ilo, Republika ti Filipinas * ivv, Republika nu Filipinas * pam, Republika ning Filipinas * krj, Republika kang Pilipinas * mdh, Republika nu Pilipinas * mrw, Republika a Pilipinas * pag, Republika na Filipinas * xsb, Republika nin Pilipinas * sgd, Republika nan Pilipinas * tgl, Republika ng Pilipinas * tsg, Republika sin Pilipinas * war, Republika han Pilipinas * yka, Republika si Pilipinas In the recognized optional languages of the Philippines: * es, República de las Filipinas * ar, جمهورية الفلبين, Jumhūriyyat al-Filibbīn is an archipelagic country in Southeast Asia. It is situated in the western Pacific Ocean and consists of around 7,641 islands t ...
[...More Info...]      
[...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]  


picture info

Festinating Gait
Parkinsonian gait (or festinating gait, from Latin ''festinare'' o hurry 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. Parkinsonian gait is characterized by small shuffling steps and a general slowness of movement (hypokinesia), or even the total loss of movement (akinesia) in the extreme cases. Patients with PD demonstrate reduced stride length, walking speed during free ambulation and cadence rate, while double support duration is increased. The patient has difficulty starting, but also has difficulty stopping after starting. This is due to muscle hypertonicity. ...
[...More Info...]      
[...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]  


picture info

Bradykinesia
Hypokinesia is one of the classifications of movement disorders, and refers to decreased bodily movement. Hypokinesia is characterized by a partial or complete loss of muscle movement due to a disruption in the basal ganglia. Hypokinesia is a symptom of Parkinson's disease shown as muscle rigidity and an inability to produce movement. It is also associated with mental health disorders and prolonged inactivity due to illness, amongst other diseases. The other category of movement disorder is hyperkinesia that features an exaggeration of unwanted movement, such as twitching or writhing in Huntington's disease or Tourette syndrome. Spectrum of disorders Hypokinesia describes a variety of more specific disorders: Causes The most common cause of Hypokinesia is Parkinson's disease, and conditions related to Parkinson's disease. Other conditions may also cause slowness of movements. These includhypothyroidism and severe depression.These conditions need to be carefully ruled out ...
[...More Info...]      
[...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]  


Blepharospasm
Blepharospasm is any abnormal contraction of the orbicularis oculi muscle. The condition should be distinguished from the more common, and milder, involuntary quivering of an eyelid, known as myokymia, or fasciculation. In most cases, blepharospasm symptoms last for a few days and then disappear without treatment, but in some cases the twitching is chronic and persistent, causing life-long challenges. In these cases, the symptoms are often severe enough to result in functional blindness. The person's eyelids feel like they are clamping shut and will not open without great effort. People have normal eyes, but for periods of time are effectively blind due to their inability to open their eyelids. In contrast, the reflex blepharospasm is due to any pain in and around the eye. It is of two types: essential and reflex blepharospasm. The benign essential blepharospasm (BEB) is a focal dystonia—a neurological movement disorder involving involuntary and sustained contractions of the m ...
[...More Info...]      
[...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]  


Postural Instability
A 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. Equilibrioception, 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. Signs and symptoms Cognitive dysfunction (disorientation) may occur with vestibular disorders. Cognitive deficits are not just spatial in nature, but also include non-spatial functions such as object recognition memory. Vestibular dysfunction has been shown to adversely affect processes of attention and increased demands of attention can worsen the postural sway associated with vestibular disorders. Recent MRI studies also show that humans with bilateral vestibular da ...
[...More Info...]      
[...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]  


Resting Tremor
A tremor is an involuntary, somewhat rhythmic, muscle contraction and relaxation involving oscillations or twitching movements of one or more body parts. It is the most common of all involuntary movements and can affect the hands, arms, eyes, face, head, vocal folds, trunk, and legs. Most tremors occur in the hands. In some people, a tremor is a symptom of another neurological disorder. A very common tremor is the teeth chattering, usually induced by cold temperatures or by fear. Types Tremor is most commonly classified by clinical features and cause or origin. Some of the better-known forms of tremor, with their symptoms, include the following: * Cerebellar tremor (also known as intention tremor) is a slow, broad tremor of the extremities that occurs at the end of a purposeful movement, such as trying to press a button or touching a finger to the tip of one's nose. Cerebellar tremor is caused by lesions in or damage to the cerebellum resulting from stroke, tumor, or disease such ...
[...More Info...]      
[...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]  


picture info

Parkinson's Disease
Parkinson's disease (PD), or simply Parkinson's, is a long-term degenerative disorder of the central nervous system that mainly affects the motor system. The symptoms usually emerge slowly, and as the disease worsens, non-motor symptoms become more common. The most obvious early symptoms are tremor, rigidity, slowness of movement, and difficulty with walking. Cognitive and behavioral problems may also occur with depression, anxiety, and apathy occurring in many people with PD. Parkinson's disease dementia becomes common in the advanced stages of the disease. Those with Parkinson's can also have problems with their sleep and sensory systems. The motor symptoms of the disease result from the death of cells in the substantia nigra, a region of the midbrain, leading to a dopamine deficit. The cause of this cell death is poorly understood, but involves the build-up of misfolded proteins into Lewy bodies in the neurons. Collectively, the main motor symptoms are also known as ...
[...More Info...]      
[...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]  


picture info

X-linked Recessive Inheritance
X-linked recessive inheritance is a mode of inheritance in which a mutation in a gene on the X chromosome causes the phenotype to be always expressed in males (who are necessarily homozygous for the gene mutation because they have one X and one Y chromosome) and in females who are homozygous for the gene mutation, see zygosity. Females with one copy of the mutated gene are carriers. X-linked inheritance means that the gene causing the trait or the disorder is located on the X chromosome. Females have two X chromosomes while males have one X and one Y chromosome. Carrier females who have only one copy of the mutation do not usually express the phenotype, although differences in X-chromosome inactivation (known as skewed X-inactivation) can lead to varying degrees of clinical expression in carrier females, since some cells will express one X allele and some will express the other. The current estimate of sequenced X-linked genes is 499, and the total, including vaguely defined trait ...
[...More Info...]      
[...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]  


picture info

Hiligaynon People
The Hiligaynon people (''mga Hiligaynon''), often referred to as Ilonggo people (''mga Ilonggo'') or Panayan people (''mga Panayanon''), are a Visayan ethnic group whose primary language is Hiligaynon, an Austronesian language of the Visayan branch native to Panay, Guimaras, and Negros. Over the years, inter-migrations and intra-migrations have contributed to the diaspora of the Hiligaynon to different parts of the Philippines. Today, the Hiligaynon form the majority in the provinces of Iloilo, Negros Occidental, Guimaras, Capiz, South Cotabato, Sultan Kudarat, and North Cotabato. Etymology of ''Hiligaynon'' and ''Ilonggo'' The demonym "Hiligaynon" is from Spanish ''Hiligueinos'' (also spelled ''Yliguenes'', ''Yligueynes'', or ''Hiligueynos''), which is derived from the older demonym "Iligan" or "Iliganon", meaning "people of the coast", from the root word ''ilig'' ("to go downstream"), referring to a river in Iloilo, Panay. During the early Spanish colonial period, the conqui ...
[...More Info...]      
[...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]  


picture info

Capiz
Capiz, officially the Province of Capiz ( Capiznon/ Hiligaynon: ''Kapuoran sang Capiz''; tl, Lalawigan ng Capiz), is a province in the Philippines located in the central section of Western Visayas region. Its capital is the city of Roxas. It is located at the northeastern portion of Panay Island, bordering Aklan to the north, Antique to the west, and Iloilo to the south. Capiz faces the Sibuyan Sea to the north. Capiz is known for the ''Placuna placenta'' oyster shell that has the same name locally and is used for decoration and making lampshades, trays, window and doors. Likewise, the province is known as the "Seafood Capital of the Philippines" and was among the top 15 most frequently visited places in the Philippines. Capiz is the site of the famous coral-stone Santa Monica Church in the town of Panay, home to the largest Catholic Church bell in Asia. The bell was made from 70 sacks of gold and silver coins donated by the townsfolk. Measuring seven feet in diameter, five fe ...
[...More Info...]      
[...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]  




Extrapyramidal And Movement Disorders
Extrapyramidal can refer to: * Extrapyramidal system * Extrapyramidal symptoms Extrapyramidal symptoms (EPS) are symptoms that are archetypically associated with the extrapyramidal system of the brain's cerebral cortex. When such symptoms are caused by medications or other drugs, they are also known as extrapyramidal side ...
{{disambiguation ...
[...More Info...]      
[...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]