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Late-onset Spinal Motor Neuronopathy
Jokela type spinal muscular atrophy (SMAJ), also known as late-onset spinal motor neuronopathy (LOSMoN), is an ultra-rare neuromuscular disorder characterized by muscle twitches and cramps. The symptoms appear in adulthood and gradually progress. The disease is caused by a mutation in the ''CHCHD10'' gene and is inherited in an autosomal dominant pattern. It was first described by the Finnish neurologist Manu Jokela in 2011. Symptoms and signs The first symptoms include muscle cramps and muscle twitches affecting the upper and lower limbs. They appear usually after age of 40. The disease is slowly progressive with adult onset and results in weakness and mild muscle atrophy. The disease does not affect life expectancy. However, it is difficult to differentiate the disease from a more fatal amyotrophic lateral sclerosis in diagnosis. Ultimately, SMAJ can lead to reduced ability in motor function for skills such as walking. SMAJ may also reduce one’s nerve function and abi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
North Karelia
North Karelia ( fi, Pohjois-Karjala; sv, Norra Karelen) is a region in eastern Finland. It borders the regions of Kainuu, North Savo, South Savo and South Karelia, as well as Russia's Republic of Karelia. It is the easternmost region of Finland and shares a border with Russia. The city of Joensuu is the capital and the largest settlement of the region. North Karelia has successfully reduced chronic diseases through public health measures. In the 1960s Finland led industrialized nations in heart disease mortality rates; North Karelia had Finland's highest incidence. In 1972 a long-term project was undertaken which targeted this risk in North Karelia. The resulting improvement in public health is still considered remarkable, a model for the rest of the nation. North Karelia is also known as the most sociable region in Finland. Historical province Municipalities The region of North Karelia is made up of 13 municipalities, of which five have city status (marked in bold ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Life Expectancy
Life expectancy is a statistical measure of the average time an organism is expected to live, based on the year of its birth, current age, and other demographic factors like sex. The most commonly used measure is life expectancy at birth (LEB), which can be defined in two ways. ''Cohort'' LEB is the mean length of life of a birth cohort (all individuals born in a given year) and can be computed only for cohorts born so long ago that all their members have died. ''Period'' LEB is the mean length of life of a hypothetical cohort assumed to be exposed, from birth through death, to the mortality rates observed at a given year. National LEB figures reported by national agencies and international organizations for human populations are estimates of ''period'' LEB. In the Bronze Age and the Iron Age, human LEB was 26 years; in 2010, world LEB was 67.2 years. In recent years, LEB in Eswatini (formerly Swaziland) is 49, while LEB in Japan is 83. The combination of high infant ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Spinal Muscular Atrophies
Spinal muscular atrophies (SMAs) are a genetically and clinically heterogeneous group of rare debilitating disorders characterised by the degeneration of lower motor neurons (neuronal cells situated in the anterior horn of the spinal cord) and subsequent atrophy (wasting) of various muscle groups in the body. While some SMAs lead to early infant death, other diseases of this group permit normal adult life with only mild weakness. Classification Based on the type of muscles affected, spinal muscular atrophies can be divided into: * ''Proximal spinal muscular atrophies'', i.e., conditions that affect primarily proximal muscles; * ''Distal spinal muscular atrophies'' (which significantly overlap with distal hereditary motor neuronopathies) where they affect primarily distal muscles. When taking into account prevalence, spinal muscular atrophies are traditionally divided into: * '' Autosomal recessive proximal spinal muscular atrophy'', responsible for 90-95% of cases and usual ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Finnish Heritage Disease
A Finnish heritage disease is a genetic disease or disorder that is significantly more common in people whose ancestors were ethnic Finns, natives of Finland and Sweden (Meänmaa) and Russia (Karelia and Ingria). There are 36 rare diseases regarded as Finnish heritage diseases. The diseases are not restricted to Finns; they are genetic diseases with far wider distribution in the world, but due to founder effects and genetic isolation they are more common in Finns. Within Finland these diseases are more common in the east and north, consistent with their higher association with ethnic Finns than with ethnic Swedes. The Finnish disease heritage does not extend to other ethnic groups in the region, the Sámi and Karelians other than Finnish Karelians. It is attributed to a population bottleneck among ancestors of modern Finns, estimated to have occurred about 4000 years ago, presumably when populations practicing agriculture and animal husbandry arrived in Finland. In Finlan ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chromosome 22 (human)
Chromosome 22 is one of the 23 pairs of chromosomes in human cells. Humans normally have two copies of chromosome 22 in each cell. Chromosome 22 is the second smallest human chromosome, spanning about 49 million DNA base pairs and representing between 1.5 and 2% of the total DNA in cells. In 1999, researchers working on the Human Genome Project announced they had determined the sequence of base pairs that make up this chromosome. Chromosome 22 was the first human chromosome to be fully sequenced. Human chromosomes are numbered by their apparent size in the karyotype, with Chromosome 1 being the largest and Chromosome 22 having originally been identified as the smallest. However, genome sequencing has revealed that Chromosome 21 is actually smaller than Chromosome 22. Genes Number of genes The following are some of the gene count estimates of human chromosome 22. Because researchers use different approaches to genome annotation, their predictions of the number of genes on ea ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Finland
Finland ( fi, Suomi ; sv, Finland ), officially the Republic of Finland (; ), is a Nordic country in Northern Europe. It shares land borders with Sweden to the northwest, Norway to the north, and Russia to the east, with the Gulf of Bothnia to the west and the Gulf of Finland across Estonia to the south. Finland covers an area of with a population of 5.6 million. Helsinki is the capital and largest city, forming a larger metropolitan area with the neighbouring cities of Espoo, Kauniainen, and Vantaa. The vast majority of the population are ethnic Finns. Finnish, alongside Swedish, are the official languages. Swedish is the native language of 5.2% of the population. Finland's climate varies from humid continental in the south to the boreal in the north. The land cover is primarily a boreal forest biome, with more than 180,000 recorded lakes. Finland was first inhabited around 9000 BC after the Last Glacial Period. The Stone Age introduced several different ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Karelia
Karelia ( Karelian and fi, Karjala, ; rus, Каре́лия, links=y, r=Karélija, p=kɐˈrʲelʲɪjə, historically ''Korjela''; sv, Karelen), the land of the Karelian people, is an area in Northern Europe of historical significance for Russia (including the Soviet era), Finland, and Sweden. It is currently divided between northwestern Russia (specifically the federal subjects of the Republic of Karelia and Leningrad Oblast) and Finland (the regions of South Karelia, North Karelia, and the eastern portion of modern-day Kymenlaakso). Use of name Various subdivisions may be called Karelia. Finnish Karelia was a historical province of Finland, and is now divided between Finland and Russia, often called just ''Karjala'' in Finnish. The eastern part of this chiefly Lutheran area was ceded to Russia after the Winter War of 1939–40. The Republic of Karelia is a Russian federal subject, including East Karelia with a chiefly Russian Orthodox population. Withi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis (ALS), also known as motor neuron disease (MND) or Lou Gehrig's disease, is a neurodegenerative disease that results in the progressive loss of motor neurons that control voluntary muscles. ALS is the most common type of motor neuron diseases. Early symptoms of ALS include stiff muscles, muscle twitches, and gradual increasing weakness and muscle wasting. ''Limb-onset ALS'' begins with weakness in the arms or legs, while ''bulbar-onset ALS'' begins with difficulty speaking or swallowing. Half of the people with ALS develop at least mild difficulties with thinking and behavior, and about 15% develop frontotemporal dementia. Most people experience pain. The affected muscles are responsible for chewing food, speaking, and walking. Motor neuron loss continues until the ability to eat, speak, move, and finally the ability to breathe is lost. ALS eventually causes paralysis and early death, usually from respiratory failure. Most cases of ALS (a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Muscle Atrophy
Muscle atrophy is the loss of skeletal muscle mass. It can be caused by immobility, aging, malnutrition, medications, or a wide range of injuries or diseases that impact the musculoskeletal or nervous system. Muscle atrophy leads to muscle weakness and causes disability. Disuse causes rapid muscle atrophy and often occurs during injury or illness that requires immobilization of a limb or bed rest. Depending on the duration of disuse and the health of the individual, this may be fully reversed with activity. Malnutrition first causes fat loss but may progress to muscle atrophy in prolonged starvation and can be reversed with nutritional therapy. In contrast, cachexia is a wasting syndrome caused by an underlying disease such as cancer that causes dramatic muscle atrophy and cannot be completely reversed with nutritional therapy. Sarcopenia is age-related muscle atrophy and can be slowed by exercise. Finally, diseases of the muscles such as muscular dystrophy or myopathies can caus ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Neuromuscular Disorder
A neuromuscular disease is any disease affecting the peripheral nervous system (PNS), the neuromuscular junction, or skeletal muscle, all of which are components of the motor unit. Damage to any of these structures can cause muscle atrophy and weakness. Issues with sensation can also occur. Neuromuscular diseases can be acquired or genetic. Mutations of more than 500 genes have shown to be causes of neuromuscular diseases. Other causes include nerve or muscle degeneration, autoimmunity, toxins, medications, malnutrition, metabolic derangements, hormone imbalances, infection, nerve compression/entrapment, comprised blood supply, and trauma. Signs and symptoms Symptoms of neuromuscular disease may include numbness, paresthesia, muscle weakness, muscle atrophy, myalgia (muscle pain), and fasciculations (muscle twitches). Causes Neuromuscular disease can be caused by autoimmune disorders, genetic/hereditary disorders and some forms of the collagen disorder Ehlers–Danlos synd ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Muscle Twitch
A fasciculation, or muscle twitch, is a spontaneous, involuntary muscle contraction and relaxation, involving fine muscle fibers. They are common, with as many as 70% of people experiencing them. They can be benign, or associated with more serious conditions. When no cause or pathology is identified, they are diagnosed as benign fasciculation syndrome. Diagnosis The most effective way to detect fasciculations may be surface electromyography (EMG). Surface EMG is more sensitive than needle electromyography and clinical observation in the detection of fasciculation in people with amyotrophic lateral sclerosis. Deeper areas of contraction can be detected by electromyography (EMG) testing, though they can happen in any skeletal muscle in the body. Fasciculations arise as a result of spontaneous depolarization of a lower motor neuron leading to the synchronous contraction of all the skeletal muscle fibers within a single motor unit. An example of normal spontaneous depolarization i ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Muscle Cramp
A cramp is a sudden, involuntary, painful skeletal muscle contraction or overshortening associated with electrical activity; while generally temporary and non-damaging, they can cause significant pain and a paralysis-like immobility of the affected muscle. A cramp usually goes away on its own over a period of several seconds, or minutes. Cramps are common and tend to occur at rest, usually at night (nocturnal leg cramps). They are also often associated with pregnancy, physical exercise or overexertion, age (common in older adults), in such cases, cramps are called idiopathic, because there is no underlying pathology. In addition to those benign conditions cramps are also associated with many pathologic conditions. Skeletal muscle cramps may be caused by muscle fatigue or a lack of electrolytes such as sodium (a condition called hyponatremia), potassium (called hypokalemia), or magnesium (called hypomagnesemia). Some skeletal muscle cramps do not have a known cause. Motor neuro ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
