A very rare lysosomal storage disease that is clinically and pathologically heterogeneous and is characterized by deficient NAGA activity. Epidemiology Exact prevalence of NAGA deficiency is unknown but fewer than 20 cases have been reported to date in patients of German, Dutch, Spanish, Japanese, French and Moroccan origin. Clinical description Extreme clinical variability has been reported. Cases of NAGA deficiency have been divided into 3 clinical subtypes: NAGA deficiency type 1, type 2 and type 3 (see these terms). Type 1 is characterized by infantile-onset neuroaxonal dystrophy, type 2 is described in adult patients with angiokeratoma corporis diffusum and minimal involvement of the nervous system and type 3 is an intermediate clinical form with manifestations ranging from intellectual impairment, neurological dysfunction and seizures to milder neurological and psychiatric issues such as speech and language delays or mild autism-like symptoms. Etiology All individuals with NAGA deficiency have mutations in the alpha-N-acetylgalactosaminidase gene ( NAGA ; 22q13.2) but not all develop neurological symptoms.

A very rare and severe type of NAGA deficiency characterized by infantile neuroaxonal dystrophy. Epidemiology Prevalence of this disorder is not known but less than 20 cases have been reported to date for NAGA deficiency Clinical description The disease presents with psychomotor retardation at around 9 months of age and later, at the age of 2, with developmental retrogression. Further manifestations follow between the ages of 4-10 years, including muscular hypotonia, spasticity, nystagmus, strabismus, myoclonic jerks, grand-mal seizures, cortical blindness and deafness, optic and brain atrophy, loss of environmental contact and decorticate posturing. No visceromegaly or coarsening of features has been reported. Etiology NAGA deficiency type 1 is caused by a homozygous NAGA gene (22q13.2) mutation resulting in a Glu325-to-Lys (E325K) substitution and the dysfunction, instability and rapid degradation of the lysosomal protein NAGA. Genetic counseling Transmission is autosomal recessive and genetic counseling is possible.

A number sign (#) is used with this entry because of evidence that Schindler disease types I and III are caused by homozygous or compound heterozygous mutation in the alpha-N-acetylgalactosaminidase gene (NAGA; 104170) on chromosome 22q13. Description Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disorder. It is clinically heterogeneous with 3 main phenotypes: type I is an infantile-onset neuroaxonal dystrophy; type II, also known as Kanzaki disease (609242), is an adult-onset disorder characterized by angiokeratoma corporis diffusum and mild intellectual impairment; and type III is an intermediate disorder with mild to moderate neurologic manifestations (Desnick and Schindler, 2001). Clinical Features Schindler Disease, Type I Van Diggelen et al. (1987, 1988) reported 2 sons of a German couple with remote consanguinity who were affected with type I lysosomal alpha-N-acetylgalactosaminidase deficiency. Starting at age 9 months, the boys showed neurologic symptoms and developmental delay followed by rapid progressive psychomotor deterioration.

Schindler disease Other names NAGA deficiency Schindler disease is inherited via an autosomal recessive manner Specialty Endocrinology Schindler disease , also known as Kanzaki disease and alpha-N-acetylgalactosaminidase deficiency is a rare disease found in humans. This lysosomal storage disorder is caused by a deficiency in the enzyme alpha-NAGA ( alpha-N-acetylgalactosaminidase ), attributable to mutations in the NAGA gene on chromosome 22 , [1] [2] which leads to excessive lysosomal accumulation of glycoproteins . [3] A deficiency of the alpha-NAGA enzyme leads to an accumulation of glycosphingolipids throughout the body. This accumulation of sugars gives rise to the clinical features associated with this disorder. Schindler disease is an autosomal recessive disorder, meaning that one must inherit an abnormal allele from both parents in order to have the disease. Contents 1 Types 2 Cause 3 Diagnosis 4 Management 5 History 6 See also 7 References 8 Further reading 9 External links Types [ edit ] There are three main types of the disease each with its own distinctive symptoms. [4] Type I infantile form, infants will develop normally until about a year old.

Schindler disease is an inherited condition that primarily causes neurological problems. There are three types of Schindler disease. Schindler disease type 1 , also called the infantile type, is the most severe form. Babies with this condition appear healthy a birth, but by the age of 8 to 15 months they stop developing new skills and begin losing skills they had already acquired. As the condition progresses, affected individuals develop blindness and seizures, and eventually lose awareness of their surroundings and become unresponsive. People with this form of the condition usually don't survive past early childhood.

Overview Alpha-gal syndrome is a type of food allergy. It makes people allergic to red meat and other products made from mammals. In the United States, the condition usually begins with the bite of the Lone Star tick. The bite transfers a sugar molecule called alpha-gal into the body. In some people, this triggers a reaction from the body's defenses, also called the immune system. It causes mild to severe allergic reactions to red meat, such as beef, pork or lamb. It also can cause reactions to other foods that come from mammals, such as dairy products or gelatins.

A rare X-linked syndromic intellectual disability characterized by intellectual impairment of variable severity, progressive lower limb spasticity, and diffuse palmoplantar hyperkeratosis. Additional manifestations include pes cavus, extensor plantar responses, hand tremor, and mild dysmorphic facial features.

This article is about the disorder. For other uses, see Triggerfinger (disambiguation) . Not to be confused with De Quervain syndrome . Trigger finger Other names Historicopous, trigger digit, trigger thumb, [1] stenosing tenosynovitis [1] Play media An example of trigger finger affecting the ring finger Specialty Plastic surgery Symptoms Catching or locking of the involved finger, pain [2] [3] Usual onset 50s to 60s years old [2] Risk factors Repeated injury, diabetes , kidney disease, thyroid disease, inflammatory disease [3] Diagnostic method Based on symptoms [2] Differential diagnosis Fracture, tumor, injury [2] Treatment Rest, splinting the finger, NSAIDs , steroid injections, surgery [3] Frequency Relatively common [2] Trigger finger , also known as stenosing tenosynovitis , is a disorder characterized by catching or locking of the involved finger. [2] Pain may occur in the palm of the hand or knuckles. [3] The name is due to the popping sound made by the affected finger when moved. [2] Most commonly the ring finger or thumb is affected. [1] Risk factors include repeated injury, diabetes , kidney disease, thyroid disease, and inflammatory disease. [3] The underlying mechanism involves the tendon sheath being too narrow for the flexor tendon . [3] This typically occurs at the level of the A1 pulley . [2] While often referred to as a type of stenosing tenosynovitis , little inflammation appears to be present. [3] Diagnosis is typically based on symptoms after excluding other possible causes. [2] Initial treatment is generally with rest, splinting the finger, NSAIDs , or steroid injections. [3] If this is not effective surgery may be used. [3] Trigger finger is relatively common. [2] Females are affected more often than males. [3] Those in their 50s and 60s are most commonly affected. [2] The condition was formally described in 1850. [2] Contents 1 Signs and symptoms 2 Causes 3 Diagnosis 4 Treatment 4.1 Surgery 5 Prognosis 6 References 7 External links Signs and symptoms [ edit ] Symptoms include catching or locking of the involved finger. [2] As the disease progresses pain may occur in the palm of the hand or knuckles. [3] In the ring and middle fingers, often a nodule can be felt at the area of the hand where the palm meets the finger. [4] Causes [ edit ] The cause of trigger finger is unclear but several causes have been proposed. [2] It has also been called stenosing tenosynovitis (specifically digital tenosynovitis stenosans ), but this may be a misnomer, as inflammation is not a predominant feature. It has been speculated that repetitive forceful use of a digit leads to narrowing of the fibrous digital sheath in which it runs, but there is little scientific data to support this theory. The relationship of trigger finger to work activities is debatable and scientific evidence for [5] and against [6] hand use as a cause exist. While the mechanism is unclear, there is some evidence that triggering of the thumb is more likely to occur following surgery for carpal tunnel syndrome . [7] It may also occur in rheumatoid arthritis .

A number sign (#) is used with this entry because of evidence that 3MC syndrome-1 is caused by homozygous mutation in the MASP1 gene (600521) on chromosome 3q27. Description The term '3MC syndrome' encompasses 4 rare autosomal recessive disorders that were previously designated the Carnevale, Mingarelli, Malpuech, and Michels syndromes, respectively. The main features of these syndromes are facial dysmorphism that includes hypertelorism, blepharophimosis, blepharoptosis, and highly arched eyebrows, which are present in 70 to 95% of cases. Cleft lip and palate, postnatal growth deficiency, cognitive impairment, and hearing loss are also consistent findings, occurring in 40 to 68% of cases. Craniosynostosis, radioulnar synostosis, and genital and vesicorenal anomalies occur in 20 to 30% of cases.

3MC syndrome is a disorder characterized by unusual facial features and problems affecting other tissues and organs. The distinctive facial features of people with 3MC syndrome include widely spaced eyes (hypertelorism ), a narrowing of the eye opening (blepharophimosis ), droopy eyelids (ptosis ), highly arched eyebrows , and an opening in the upper lip (cleft lip ) with an opening in the roof of the mouth (cleft palate ). Other common features of 3MC syndrome include developmental delay, intellectual disability, hearing loss, and slow growth after birth resulting in short stature. Less often, individuals with 3MC syndrome can have abnormal fusion of certain bones in the skull (craniosynostosis) or forearm (radioulnar synostosis); an outgrowth of the tailbone (caudal appendage); a soft out-pouching around the belly-button (an umbilical hernia ); and abnormalities of the kidneys, bladder, or genitals. 3MC syndrome encompasses four disorders that were formerly considered to be separate: Mingarelli, Malpeuch, Michels, and Carnevale syndromes. Researchers now generally consider these disorders to be part of the same condition, which is called 3MC based on the initials of the older condition names.