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Biochemical Features Koler et al. (1964) found that patients with PK deficiency in red blood cells had normal PK activity in white blood cells, suggesting that the 2 enzymes were encoded by different loci. ... Bigley and Koler (1968) found decreased liver PK activity in a patient with hemolytic anemia due to red cell PK deficiency. ... Shinohara et al. (1976) described a new pyruvate kinase variant, PK Osaka, and discussed the various PK isozymes and their nomenclature. The variant was ascertained through a patient with PK deficiency hemolytic anemia. A genetic compound for 2 different PK mutations was studied by Zanella et al. (1978). ... The variants were called PK Sendai and PK Shinshu. Valentine et al. (1988) characterized the PK Greensboro variant.
Pyruvate kinase deficiency is a genetic blood disorder characterized by low levels of an enzyme called pyruvate kinase , which is used by red blood cells. Without pyruvate kinase, red blood cells break down too easily, resulting in low levels of these cells (hemolytic anemia). The signs and symptoms of the disease may vary greatly from person to person. However, they usually include jaundice, enlargement of the spleen , and mild or severe hemolysis (red cell breakdown), leading to anemia. In some cases, the problems may first appear while in utero, causing a condition in which abnormal amounts of fluid build up in two or more body areas of the fetus (hydrops fetalis).
Pyruvate kinase deficiency is an inherited disorder that affects red blood cells, which carry oxygen to the body's tissues. People with this disorder have a condition known as chronic hemolytic anemia, in which red blood cells are broken down (undergo hemolysis) prematurely, resulting in a shortage of red blood cells (anemia). Specifically, pyruvate kinase deficiency is a common cause of a type of inherited hemolytic anemia called hereditary nonspherocytic hemolytic anemia. In hereditary nonspherocytic hemolytic anemia, the red blood cells do not assume a spherical shape as they do in some other forms of hemolytic anemia. Chronic hemolytic anemia can lead to unusually pale skin (pallor), yellowing of the eyes and skin (jaundice), extreme tiredness (fatigue), shortness of breath (dyspnea), and a rapid heart rate (tachycardia).
Chronic icterus, gallstones, iron overload and splenomegaly are common findings. Etiology Erythrocyte PK deficiency is caused by mutations in the PKLR gene (1q22). To date, more than 290 mutations in PKLR have been reported. PK is a key regulatory enzyme of glycolysis and two major metabolic abnormalities result from PK deficiency: ATP depletion and increased 2,3-diphosphoglycerate (2,3-DPG) content. ... Red blood cell morphology is essentially normal. PK deficiency is diagnosed by measuring PK enzymatic activity. Importantly, due to the fact that the enzymatic activity is red cell age-dependent, a deficiency of PK may be masked by reticulocytosis. ... Bone marrow transplantation can cure PK deficiency but is rarely performed.
Fitzpatrick's Dermatology in General Medicine (6th ed.). McGraw-Hill. ISBN 978-0-07-138076-8 . ^ Rapini RP, Bolognia JL, Jorizzo JL (2007). ... Andrews' Diseases of the Skin: Clinical Dermatology . Saunders Elsevier. ISBN 978-0-7216-2921-6 . ^ Ludwig S, Strobel S, Marks SD, Smith PK, El Habbal MH, Spitz L (2008). ... Lippincott Williams & Wilkins. p. 517. ISBN 978-0-7817-9505-0 . ^ Leopardi G, Chiarella G, Conti S, Cassandro E (December 2008).
Clinical Features In an Israeli Arab family reported by Bashan et al. (1981), a 4-year-old brother and 2 sisters had marked hepatomegaly and marked accumulation of glycogen in both liver and muscle, without clinical symptoms. Liver phosphorylase kinase (PK) activity was 20% of normal, resulting in undetectable activity of phosphorylase a. Muscle PK was about 25% of normal, resulting in a marked decrease of phosphorylase a activity. ... Residual phosphorylase kinase activities were 18% of normal in red cells, 5% in liver of the sister, and 0 to 13% (depending on pH) in muscle of the male.
A benign inborn error of glycogen metabolism. It is the mildest form of GSD due to PhK deficiency. Epidemiology Prevalence is unknown. Clinical description The disease manifests in childhood. Patients have marked hepatomegaly and mild muscular hypotonia. Hypoglycemia may occur only after prolonged fasting. These symptoms improve with age and adults are generally asymptomatic. Etiology Phosphorylase kinase (PhK) is an enzyme which plays a key role in the regulation of glycogenolysis as it is required for glycogen phosphorylase activation.
Andrews' Diseases of the Skin: clinical Dermatology . Saunders Elsevier. ISBN 0-7216-2921-0 . ^ La Fontaine J, Harkless LB, Davis CE, Allen MA, Shireman PK (2006).
A number sign (#) is used with this entry because pachyonychia congenita-4 (PC4) is caused by heterozygous mutation in the KRT6B gene (148042) on chromosome 12q13. Description Pachyonychia congenita (PC) is an autosomal dominant genodermatosis with the main clinical features of hypertrophic nail dystrophy, painful and highly debilitating plantar keratoderma, oral leukokeratosis, and a variety of epidermal cysts. Although the condition had previously been subdivided clinically into Jadassohn-Lewandowsky PC type 1 and Jackson-Lawler PC type 2, patients with PC were later found to have a mixed constellation of both types, leading to a classification of PC based on genotype (summary by Sybert, 2010; Eliason et al., 2012; McLean et al., 2011). For a discussion of genetic heterogeneity of pachyonychia congenita, see 167200. Historical Classification of Pachyonychia Congenita Gorlin et al. (1976) suggested that 2 distinct syndromes are subsumed under the designation pachyonychia congenita.
Pachyonychia congenita (PC) is a rare genodermatosis predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and whitish oral mucosa. Epidemiology The prevalence is not known but approximately 1000 patients have been registered to date worldwide. Clinical description PC presents clinically as a spectrum of conditions. PC onset is variable with most cases manifesting soon after birth, others becoming clinically apparent only in late childhood and rarely in adulthood. The first signs of the disease usually are thickened nails or neonatal teeth.
Pachyonychia congenita (PC) is a rare inherited condition that primarily affects the nails and skin. The fingernails and toenails may be thickened and abnormally shaped . Affected people can also develop painful calluses and blisters on the soles of their feet and less frequently on the palms of their hands ( palmoplantar keratoderma ). Additional features include white patches on the tongue and inside of the mouth (leukokeratosis); bumps around the elbows, knees, and waistline (follicular hyperkeratosis); and cysts of various types including steatocystoma. Features may vary among affected people depending on their specific mutation.
For a phenotypic description and a discussion of genetic heterogeneity of pachyonychia congenita, see 167200. Inheritance Chong-Hai and Rajagopalan (1977) suggested autosomal recessive inheritance of pachyonychia congenita in a 4-year-old Malaysian girl with first-cousin parents, although they recognized new dominant mutation as a possibility. See also Sivasundram et al. (1985). INHERITANCE - Autosomal recessive HEAD & NECK Mouth - No oral leukoplakia SKIN, NAILS, & HAIR Skin - Horny papules (face, leg, buttocks) - No palmoplantar hyperkeratosis - No hyperhidrosis Nails - Episodic inflammatory swelling of nail bed - Recurrent shedding of nails - Hard,thickened nails (pachyonychia) - Subungual hyperkeratosis MISCELLANEOUS - See also pachyonychia congenita, type 3 (PC1, 167200 ) ▲ Close
A number sign (#) is used with this entry because pachyonychia congenita-3 (PC3) is caused by heterozygous mutation in the keratin-6a gene (KRT6A; 148041) on chromosome 12q13. Description Pachyonychia congenita (PC) is an autosomal dominant genodermatosis with the main clinical features of hypertrophic nail dystrophy, painful and highly debilitating plantar keratoderma, oral leukokeratosis, and a variety of epidermal cysts. Although the condition had previously been subdivided clinically into Jadassohn-Lewandowsky PC type 1 and Jackson-Lawler PC type 2, patients with PC were later found to have a mixed constellation of both types, leading to a classification of PC based on genotype (summary by Sybert, 2010; Eliason et al., 2012; McLean et al., 2011). For a discussion of genetic heterogeneity of pachyonychia congenita, see 167200. Historical Classification of Pachyonychia Congenita Gorlin et al. (1976) suggested that 2 distinct syndromes are subsumed under the designation pachyonychia congenita.
A number sign (#) is used with this entry because of evidence that pachyonychia congenita-2 (PC2) is caused by heterozygous mutation in the KRT17 gene (148069) on chromosome 17q21. Description Pachyonychia congenita (PC) is an autosomal dominant genodermatosis with the main clinical features of hypertrophic nail dystrophy, painful and highly debilitating plantar keratoderma, oral leukokeratosis, and a variety of epidermal cysts. Although the condition had previously been subdivided clinically into Jadassohn-Lewandowsky PC type 1 and Jackson-Lawler PC type 2, patients with PC were later found to have a mixed constellation of both types, leading to a classification of PC based on genotype (summary by Sybert, 2010; Eliason et al., 2012; McLean et al., 2011). For a discussion of genetic heterogeneity of pachyonychia congenita, see 167200. Historical Classification of Pachyonychia Congenita Gorlin et al. (1976) suggested that 2 distinct syndromes are subsumed under the designation pachyonychia congenita.
A number sign (#) is used with this entry because pachyonychia congenita-1 (PC1) is caused by heterozygous mutation in the keratin-16 gene (KRT16; 148067) on chromosome 17q21. Description Pachyonychia congenita (PC) is an autosomal dominant genodermatosis with the main clinical features of hypertrophic nail dystrophy, painful and highly debilitating plantar keratoderma, oral leukokeratosis, and a variety of epidermal cysts. Although the condition had previously been subdivided clinically into Jadassohn-Lewandowsky PC type 1 and Jackson-Lawler PC type 2, patients with PC were later found to have a mixed constellation of both types, leading to a classification of PC based on genotype (summary by Sybert, 2010; Eliason et al., 2012; McLean et al., 2011). Historical Classification of Pachyonychia Congenita Gorlin et al. (1976) suggested that 2 distinct syndromes are subsumed under the designation pachyonychia congenita. PC type 1, the Jadassohn-Lewandowsky type, shows oral leukokeratosis.
A number sign (#) is used with this entry because Pallister-Killian syndrome (PKS) is a dysmorphic condition caused by mosaicism for tetrasomy of chromosome 12p. ... Zakowski et al. (1992) described absence of the pericardium and focal aplasia cutis in the axillary area in PKS. Mauceri et al. (2000) reported a 15-year-old girl with Pallister-Killian syndrome and pineal tumor. ... Yeung et al. (2009) reported a girl with PKS who was referred at age 7 months for developmental delay and dysmorphic features. ... Pallister-Killian Syndrome Due to Hexasomy of Chromosome 12p Vogel et al. (2009) reported a 5-year-old girl with PKS resulting from mosaicism for 2 supernumerary isochromosomes, or hexasomy 12p. ... Vogel et al. (2009) suggested that phenotypic variation in PKS is most likely a result of which tissue types carry the mosaic cell line more than the percentage of mosaic cells or gene-dosage effects.
Pallister-Killian syndrome (PKS) is a rare multiple congenital anomaly/intellectual deficit syndrome caused by mosaic tissue-limited tetrasomy for chromosome 12p. ... Severe intellectual deficit, pigmentary skin anomalies, deafness and seizures are frequent signs. Etiology Patients with PKS have mosaïcism for a supernumerary isochromosome 12p, resulting in four copies of the short arm of chromosome 12 instead of the normal two.
Pallister-Killian mosaic syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by extremely weak muscle tone (hypotonia) in infancy and early childhood, intellectual disability, distinctive facial features, sparse hair, areas of unusual skin coloring (pigmentation), and other birth defects. Most babies with Pallister-Killian mosaic syndrome are born with significant hypotonia, which can cause difficulty breathing and problems with feeding. Hypotonia also interferes with the normal development of motor skills such as sitting, standing, and walking. About 30 percent of affected individuals are ultimately able to walk without assistance.
Pallister-Killian syndrome Other names Tetrasomy 12p mosaicism, Pallister mosaic aneuploidy syndrome Pallister–Killian syndrome (also tetrasomy 12p mosaicism or Pallister mosaic aneuploidy syndrome ) is an extremely rare genetic disorder occurring in humans . Pallister–Killian occurs due to the presence of the anomalous extra isochromosome 12p, the short arm of the twelfth chromosome . This leads to the development of tetrasomy 12p. [1] Because not all cells have the extra isochromosome, Pallister–Killian is a mosaic condition (more readily detected in skin fibroblasts ). It was first described by Philip Pallister in 1977 and further researched by Maria Teschler-Nicola and Wolfgang Killian in 1981. [2] Contents 1 Presentation 2 Causes 3 Diagnosis 4 See also 5 References 6 External links Presentation [ edit ] This section does not cite any sources . Please help improve this section by adding citations to reliable sources .
Pallister-Killian mosaic syndrome is a multi-system disorder that is characterized by extremely weak muscle tone (hypotonia) in infancy and early childhood, intellectual disability, distinctive facial features, sparse hair, areas of unusual skin coloring (pigmentation), and other birth defects. The signs and symptoms of Pallister-Killian mosaic syndrome can vary, although most documented cases of people with the syndrome have severe to profound intellectual disability and other serious health problems. Pallister-Killian mosaic syndrome is usually caused by the presence of an abnormal extra chromosome 12 called isochromosome 12p. An isochromosome is a chromosome with two identical arms. Normal chromosomes have one long (q) arm and one short (p) arm, but isochromosomes have either two q arms or two p arms. Isochromosome 12p is a version of chromosome 12 made up of two p arms.
They showed low 2,3-diphosphoglycerate (2,3-DPG) and high adenosine triphosphate (ATP) levels. The PK electrophoretic patterns in these persons were abnormal by the presence of several additional bands. ... Inheritance - Autosomal dominant Lab - High erythrocyte adenosine triphosphate - Pyruvate kinase hyperactivity - Low 2,3-diphosphoglycerate (2,3-DPG) - Additional PK electrophoretic bands Heme - Polycythemia ▲ Close
(Vol 1, pp. 475). Philadelphia: WB Saunders ISBN 0-7216-9653-8 ^ a b c d e f g Creager, M.A. & Dzau, V.J. (2005). ... Hauser, & J.L Jameson (Eds.), Harrison's Prins of Internal Medicine (16th ed., pp. 1490). New York: McGraw-Hill ISBN 0-07-140235-7 ^ a b c d e f g (2006). ... Beer (Eds.), Merck Manual of Diagnosis and Therapy (18th ed., ch. 212). New York: Wiley, John & Sons ISBN 0-911910-18-2 ^ a b Guyton, A.C. & Hall, J.E. (2006) Textbook of Medical Physiology (11th ed.) Philadelphia: Elsevier Saunder ISBN 0-7216-0240-1 ^ Carpenter, PK; Morris, D (1990). ... Zenel (Eds.), Pediatrics (pp. 1250-61). Philadelphia: Elsevier Mosby ISBN 0-323-01199-3 ^ "Skin Color Changes in the Newborn" .
A screening study by Woelfer et al. of women without a history of reproductive problems found that about 3% of women had a uterine septation; the most common anomaly in their study was an arcuate uterus (5%), while 0.5% were found to have a bicornuate uterus . [4] In contrast, in about 15% of patients with recurrent pregnancy loss anatomical problems are thought to be causative with the septate uterus as the most common finding. [10] References [ edit ] ^ Heinonen PK (March 2006). "Complete septate uterus with longitudinal vaginal septum". ... Philadelphia: W.B.Saunders. p. 447 . ISBN 0-7216-6590-X . ^ Buttram VC, Gibbons WE (July 1979). ... Reprod Biomed Online . 14 (3): 335–40. doi : 10.1016/S1472-6483(10)60876-0 . PMID 17359587 . [ permanent dead link ] ^ Propst AM, Hill JA (2000).
Overview A double uterus is a rare condition that is present at birth in some women. In a female fetus, the uterus starts out as two small tubes. As the fetus grows, the tubes typically join to create one larger, hollow organ. This organ is the uterus. Sometimes the tubes don't join completely. Instead, each one develops into a separate organ. A double uterus may have one opening into one vagina. This opening is called the cervix. In other cases, each uterus has its own cervix. Often, there's also a thin wall of tissue that runs down the length of the vagina.
A number sign (#) is used with this entry because of evidence that tylosis with esophageal cancer is caused by heterozygous mutation in the RHBDF2 gene (614404) on chromosome 17q25.1. Description Palmoplantar keratoderma (PPK) is a complex group of hereditary syndromes that have been classified into diffuse, punctate, and focal forms according to the pattern of hyperkeratosis on the palms and soles (Lucker et al., 1994). For a discussion of phenotypic and genetic heterogeneity of palmoplantar keratoderma, see epidermolytic PPK (144200). Clinical Features Palmoplantar keratoderma (tylosis) was associated with esophageal cancer in 2 kindreds (which perhaps were related) studied in Liverpool by Howel-Evans et al. (1958); the association was first reported by Clarke and McConnell (1954). The disorder is apparently distinct. From Oxford, Shine and Allison (1966) described a 4-generation family cosegregating tylosis and esophageal stricture.
Tylosis with esophageal cancer (TOC) is an inherited condition that increases the risk for esophageal cancer. The symptoms of TOC include thickening of the skin on the palms and soles of the feet (palmoplantar keratoderma) and white lesions inside the mouth. People with TOC are at very high risk to develop esophageal cancer. The palmoplantar keratoderma usually occurs in childhood, and esophageal cancer usually occurs in adulthood. TOC is caused by a variant in the RHBDF2 gene and is inherited in an autosomal dominant pattern. Diagnosis is based on the symptoms, clinical exam, and family history.
A rare genetic disease characterized by thickening of the skin on palms and soles restricted to areas of weight bearing and/or friction (focal, non-epidermolytic palmoplantar keratoderma) and oral and esophageal leukokeratosis, associated with a very high lifetime risk of developing squamous cell carcinoma of the esophagus. The skin lesions appear in childhood and can be complicated by fissuring and infection.
Oxford: Mayo Clinic Scientific Press/Oxford University Press. p. 718. ISBN 978-0-199915712 . Retrieved 21 September 2015 . ... Oxford: Oxford University Press. p. 388. ISBN 978-0-19-968528-8 . Retrieved 21 September 2015 . ^ a b Welch, Terrence D.; Oh, Jae K. ... PMID 16776460 . ^ Chowdhury UK, Subramaniam GK, Kumar AS, Airan B, Singh R, Talwar S, Seth S, Mishra PK, Pradeep KK, Sathia S, Venugopal P (2006). ... Philadelphia: Lippincott Williams & Wilkins. p. 410. ISBN 978-0-7817-6285-4 . Retrieved 21 September 2015 .
Orthopedic surgery is the typical treatment. [1] See also [ edit ] Fibrosis References [ edit ] ^ Mukherjee PK, Das AK (1980). "Injection fibrosis in the quadriceps femoris muscle in children".
Microbes Infect . 3 (1): 11–21. doi : 10.1016/S1286-4579(00)01352-6 . PMID 11226850 . ^ Deadly scrub typhus bacteria confirmed in South America . ... Lancet . 356 (9235): 1057–1061. doi : 10.1016/S0140-6736(00)02728-8 . PMID 11009140 . ^ Arguin PM, Kozarsky PE, Reed C (2008). ... CDC Health Information for International Travel, 2008 . Mosby. ISBN 978-0-323-04885-9 . ^ "AWIC Newsletter: The Cotton Rat In Biomedical Research" . ... London: University of London, Athlone Press. ISBN 978-0-485-26318-3 . ^ Kearny CH (1997). ... Oxford: Oxford University Press. pp. 489–91. ISBN 978-0-19-823364-0 . ^ a b William Manchester (1978).
Scrub typhus is a rare dust mite-borne infectious disease caused by the Orientia tsutsugamushi bacterium and characterized clinically by an eruptive fever which is potentially serious. Epidemiology Precise prevalence and incidence rates of scrub typhus are not known. An estimated 1 billion people worldwide are at risk for scrub typhus, and an estimated 1 million cases occur each year. The disease is widespread in rural South and South-East Asia and the Western Pacific (Korea to Australia) as well as from Japan to India and Pakistan. In these regions its annual incidence is approximately 1/4,000. Scrub typhus occurs preferentially in spring and autumn in rural areas and has frequently been reported in individuals who traveled to endemic regions.
Visual acuity is usually only minimally affected but in some more severe cases, penetrating keratoplasty (PK) may be warranted. Unlike other corneal dystrophies, non-corneal manifestations have been observed and include abnormalities of the iris (iridocorneal adhesions, corectopia, and pseudopolycoria).
Mapping In a large 6-generation family with PACD, Aldave et al. (2010) performed microsatellite-based genomewide linkage analysis and obtained a single-point lod score of 3.42 (theta = 0) at marker D12S351 on chromosome 12q21.33; the largest multipoint lod score was 3.82 at D12S351. ... Fine mapping generated a maximum single-point lod score of 3.53 (theta = 0) at D12S1716, and the largest multipoint lod score was 5.62 at D12S322, with a 3.5-Mb (3.5-cM) linkage support interval between D12S1812 and D12S95, encompassing roughly the entire chromosome band 12q21.33.
Human disease Posterior amorphous corneal dystrophy Specialty Ophthalmology Posterior amorphous corneal dystrophy (PACD) is a rare form of corneal dystrophy . It is not yet linked to any chromosomal locus. The first report describing this dystrophy dates back to 1977. [1] References [ edit ] ^ Carpel EF, Sigelman RJ, Doughman DJ (May 1977). "Posterior amorphous corneal dystrophy". Am. J. Ophthalmol. 83 (5): 629–32. doi : 10.1016/0002-9394(77)90127-1 . PMID 301356 . External links [ edit ] Classification D OMIM : 612868 MeSH : C567546 C567546, C567546 v t e Types of corneal dystrophy Epithelial and subepithelial Epithelial basement membrane dystrophy Gelatinous drop-like corneal dystrophy Lisch epithelial corneal dystrophy Meesmann corneal dystrophy Subepithelial mucinous corneal dystrophy Bowman's membrane Reis–Bucklers corneal dystrophy Thiel-Behnke dystrophy Stroma Congenital stromal corneal dystrophy Fleck corneal dystrophy Granular corneal dystrophy Lattice corneal dystrophy Macular corneal dystrophy Posterior amorphous corneal dystrophy Schnyder crystalline corneal dystrophy Descemet's membrane and endothelial Congenital hereditary endothelial dystrophy Fuchs' dystrophy Posterior polymorphous corneal dystrophy X-linked endothelial corneal dystrophy This article about the eye is a stub . You can help Wikipedia by expanding it . v t e
Management and treatment An unsatisfactory response has been observed to both lamellar keratoplasty (LKP) and penetrating keratoplasty (PK), as well as to a superficial keratectomy, since amyloid recurs in the graft within about 5 years.
A number sign (#) is used with this entry because of evidence that gelatinous drop-like corneal dystrophy (GDLD) can be caused by homozygous or compound heterozygous mutation in the M1S1 gene (TACSTD2; 137290), which encodes the monoclonal antibody-defined, tumor-associated antigen GA733-1, on chromosome 1p32. Description Gelatinous drop-like corneal dystrophy is an autosomal recessive disorder characterized by severe corneal amyloidosis leading to blindness. Clinical manifestations, which appear in the first decade of life, include blurred vision, photophobia, and foreign-body sensation. By the third decade, raised, yellowish-gray, gelatinous masses severely impair visual acuity, and lamellar keratoplasty is required for most patients (summary by Tsujikawa et al., 1999). Clinical Features Corneal amyloidosis is characterized by central raised gelatinous masses, making the surface of the cornea resemble a mulberry.
Gelatinous drop-like corneal dystrophy Other names Subepithelial amyloidosis of the cornea A completely opaque cornea with multiple drop-like nodular opacities. Some blood vessels are present in the opaque cornea Apple green dichroism of subepithelial deposition of amyloid viewed under polarized light. Congo red stain. Gelatinous drop-like corneal dystrophy , also known as amyloid corneal dystrophy, is a rare form of corneal dystrophy . The disease was described by Nakaizumi as early as 1914. [1] Contents 1 Presentation 2 Genetics 3 Diagnosis 4 Treatment 5 References 6 External links Presentation [ edit ] The main pathological features in this dystrophy are mulberry-shaped gelatinous masses beneath the corneal epithelium. Patients suffer from photophobia, foreign body sensation in the cornea.
They found that the patients were more likely to have conduction abnormality (52% vs 9%), mitral valve prolapse (32% vs 9%), and wall motion abnormality (25% vs 0%). Left ventricular ejection fractions and stroke volume were reduced compared with normals. ... Using antisera developed against synthetic DM-PK peptide antigens for biochemical and histochemical studies, van der Ven et al. (1993) found lower levels of immunoreactive DM-kinase protein of 53 kD in skeletal and cardiac muscle extracts of DM patients than in normal controls. Immunohistochemical staining revealed that DM-PK is localized predominantly at sites of neuromuscular and myotendinous junctions of human and rodent skeletal muscles. ... By quantitative RT-PCR and by radioimmunoassay using antisera developed against both synthetic peptides and purified myotonin-protein kinase (Mt-PK) protein expressed in E. coli, Fu et al. (1993) demonstrated that decreased levels of the mRNA and protein expression are associated with the adult form of myotonic dystrophy. From this they suggested that the autosomal dominant nature of the disease is due to an Mt-PK dosage deficiency and that means of elevating Mt-PK level or activity should be explored for therapeutic intervention in adult patients.
Myotonic dystrophy type 1 (MD1), one of the two types of myotonic dystrophy , is an inherited type of muscular dystrophy that affects the muscles and other body systems (e.g., heart, eyes, endocrine system , and central nervous system). MD1 has three forms that somewhat overlap: the mild form, classic form, and congenital form (present at birth). The mild form has the least severe symptoms of the different forms of MD1 and is associated with a normal life span. The classic form is characterized by muscle weakness and wasting, prolonged muscle tensing ( myotonia ), cataract, and often, abnormal heart function. Adults with the classic form may become physically disabled and may have a shortened life span.
Summary Clinical characteristics. Myotonic dystrophy type 1 (DM1) is a multisystem disorder that affects skeletal and smooth muscle as well as the eye, heart, endocrine system, and central nervous system. The clinical findings, which span a continuum from mild to severe, have been categorized into three somewhat overlapping phenotypes: mild, classic, and congenital. Mild DM1 is characterized by cataract and mild myotonia (sustained muscle contraction); life span is normal. Classic DM1 is characterized by muscle weakness and wasting, myotonia, cataract, and often cardiac conduction abnormalities; adults may become physically disabled and may have a shortened life span. Congenital DM1 is characterized by hypotonia and severe generalized weakness at birth, often with respiratory insufficiency and early death; intellectual disability is common.
Myotonic dystrophy is part of a group of inherited disorders called muscular dystrophies. It is the most common form of muscular dystrophy that begins in adulthood. Myotonic dystrophy is characterized by progressive muscle wasting and weakness. People with this disorder often have prolonged muscle contractions (myotonia) and are not able to relax certain muscles after use. For example, a person may have difficulty releasing their grip on a doorknob or handle.
A rare genetic multi-system disorder characterized by a wide range of muscle-related manifestations (muscle weakness, myotonia, early onset cataracts (before age 50) and systemic manifestations (cerebral, endocrine, cardiac, gastrointestinal tract, uterus, skin and immunologic involvement) that vary depending on the age of onset. The very wide clinical spectrum ranges from lethal presentations in infancy to mild, late-onset disease. Epidemiology It is the most frequent adult muscular dystrophy and has an estimated prevalence ranging from 1/215,000 in Taiwan to 1/5,500 in Croatia. It appears to be more prevalent in the Saguenay-Lac-St-Jean region-Quebec, Canada (1/600), suggesting a founder effect. The disease occurs worldwide. Clinical description The age of onset is highly variable, from prenatal to adulthood.
