Diseases

Ceroid lipofuscinosis – Neuronal 1

Ceroid lipofuscinosis - Neuronal 1 (also known as CLN1, Classic Infantile NCL, INCL and Santavuori-Haltia) is a rare inherited biochemical disorder involving the progressive accumulation of lipopigments (lipofuscins) in neuronal cells and many organs, including the liver, spleen, myocardium, and kidneys due to deficiency of an enzyme (protease tri-peptidyl-peptidase) needed to process it. CLN1 is often caused by a mutation in the PPT1 (palmitoyl- protein thioesterase 1) gene or more rarely from mutations in the KCTD7 (Potassium channel tetramerisation domain containing 7 ) gene. The age of onset is usually between 6-24 months. 

All individuals with a ceroid lipofuscinosis neuronal disorder have progressive decline, an evolving cognitive and motor disorder, and seizures.

Ceroid lipofuscinosis – Neuronal 10

Ceroid lipofuscinosis - Neuronal 10 (also known as CLN10, Congenital neuronal ceroid lipofuscinosis and Cathepsin D deficiency disease) is a rare, severe metabolic disorder that primarily affects the nervous system and is characterized by the deposits of lipopigments (lipofuscin). CLN10 involves a deficiency of cathepsin D and involves an initial period of normal development with neurodegenerative symptoms starting during the early school years. 

Individuals with this condition typically show signs and symptoms soon after birth. These signs and symptoms can include muscle rigidity, respiratory failure, and prolonged episodes of seizure activity that last several minutes (status epilepticus). It is likely that some affected individuals also have seizures before birth while in the womb. Infants with CLN10 disease have unusually small heads (microcephaly) with brains that may be less than half the normal size. There is a loss of brain cells in areas that coordinate movement (the cerebellum) and control thinking and emotions (the cerebral cortex). Nerve cells in the brain also lack a fatty substance called myelin, which protects them and promotes efficient transmission of nerve impulses. Infants with CLN10 disease often die hours to weeks after birth.

In some individuals with CLN10 disease, the condition does not appear until later in life, between late infancy and adulthood. These individuals have a gradual loss of brain cells and often develop problems with balance and coordination (ataxia), loss of speech, a progressive loss in intellectual functioning (cognitive decline), and vision loss. Individuals with later-onset CLN10 disease have a shortened lifespan, depending on when their signs and symptoms first started.

Ceroid lipofuscinosis – Neuronal 4

Ceroid lipofuscinosis - Neuronal 4 (also known as Kufs disease and CLN4) is one of a group of rare inherited biochemical disorders known as neuronal ceroid lipofuscinoses (NCLs), which may also be collectively referred to as Batten disease. All these disorders affect the nervous system and typically cause worsening problems with vision, movement, and thinking ability. The different NCLs are distinguished by their genetic cause. Each disease type is given the designation "CLN," meaning ceroid lipofuscinosis, neuronal, and then a number to indicate its subtype. 

There are two types of CLN4 disease: Type A and Type B. Type A causes seizures, myoclonic epilepsy (muscle jerks), dementia, ataxia (compromised muscle coordination), tremors and tics, dysarthria (speech difficulties), confusion, and psychotic behaviour. Although similar to Type A, patients with Type B do not suffer from myoclonic epilepsy or dysarthria, and they do display changes in personality. It is occasional that patients present with skin disorders causing dryness, roughness, and scaliness. The signs and symptoms of CLN4 disease typically appear around age 30, but they can develop anytime between adolescence and late adulthood. In addition, the signs and symptoms of CLN4 disease worsen over time, and affected individuals usually survive about 15 years after the disorder begins.

Ceroid lipofuscinosis – Neuronal 5

Ceroid lipofuscinosis - Neuronal 5 (also known as CLN5, Neuronal ceroid lipofuscinosis Finnish variant and Finnish variant late infantile neuronal ceroid lipofuscinosis) is a rare metabolic disorder that affects the nervous system.  It is characterised by the deposits of lipopigments (lipofuscin). CLN5-NCL is caused by changes (mutations) in the CLN5 gene and is inherited in an autosomal recessive manner. 

Although the incidence of CLN5 disease is unknown; more than 85 cases have been described in the scientific literature. CLN5 disease was originally thought to affect only the Finnish population as they were the first individuals to be diagnosed with the condition. However, research has since shown that CLN5 disease affects populations worldwide. CLNs, including CLN5 disease, are still most common in Finland, where approximately 1 in 12,500 individuals are affected. Collectively, all forms of NCL affect an estimated 1 in 100,000 individuals worldwide.

Signs and symptoms of the condition generally develop between ages 4.5 and 7 years, although later onset cases have been reported. Affected people may experience loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and cognitive/motor decline. Treatment options are limited to therapies that can help relieve some of the symptom(s).

Ceroid lipofuscinosis – Neuronal 6

Ceroid lipofuscinosis - Neuronal 6 (also known as CLN6 and Variant late infantile neuronal ceroid lipofuscinosis) is a rare metabolic disorder that affects the nervous system. It is characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. CLN6 disease is caused by changes (mutations) in the CLN6 gene and is inherited in an autosomal recessive manner. The lipopigment patterns observed most often in CLN6 comprise mixed combinations of granular, curvilinear, and fingerprint profiles. It occurs predominantly in people of Portuguese, Indian, Pakistani, or Czech ancestry. The incidence of CLN6 disease is unknown; more than 125 cases have been described in the scientific literature.

Signs and symptoms of the condition generally develop between ages 18 months and 8 years, although later onset cases have been reported. Affected people may experience loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (loss of previously acquired skills). Treatment options are limited to therapies that can help relieve some of the symptoms. 

Ceroid lipofuscinosis – Neuronal 8

Ceroid lipofuscinosis - Neuronal 8 (also known as CLN8, vLINCL, EPMR and Turkish Late Infantile Variant NCL disease) is a rare metabolic disorder that affects the nerve cells of the body and is characterized by the deposits of lipopigments (lipofuscin). Type 8 is distinguished from other types by the origin of the genetic defect.

CLN8 disease is an inherited disorder that varies in severity and primarily affects the nervous system. The condition is generally separated into less-severe and more-severe forms, based on the types of signs and symptoms that develop and life expectancy. The less-severe form of CLN8 disease appears to affect only individuals of Finnish ancestry, particularly those from the Kainuu region of northern Finland, which is why it is sometimes called Northern epilepsy. Approximately 1 in 10,000 individuals in this region have the condition. The prevalence of the more-severe form of CLN8 disease is unknown. Collectively, all forms of NCL affect an estimated 1 in 100,000 individuals worldwide.

The less-severe form of CLN8 disease, sometimes referred to as Northern epilepsy, is characterized by recurrent seizures (epilepsy) and a decline in intellectual function that begins between ages 5 and 10. The seizures in this form may be resistant to treatment and are often the generalized tonic-clonic type, which involve muscle rigidity, convulsions, and loss of consciousness. Some people with this form of CLN8 disease also experience partial seizures, which do not cause a loss of consciousness. The seizures occur approximately one to two times per month until adolescence; by early adulthood the frequency decreases to about four to six times per year. By middle age, seizures become even less frequent. In addition to seizures, affected individuals experience a gradual decline in intellectual function and develop problems with coordination and balance. Vision problems may occur in early to mid-adulthood. Individuals with the less-severe form of CLN8 disease often live into late adulthood.

The more-severe form of CLN8 disease typically begins between ages 2 and 7.The seizures in this form involve uncontrollable muscle jerks (myoclonic epilepsy). Individuals with the more-severe form have a more pronounced decline in intellectual function and usually lose the ability to speak. Vision loss is also common. People with this form of CLN8 disease have increasing difficulty walking and coordinating movements (ataxia), eventually becoming immobile. Individuals with the more-severe form of CLN8 disease usually survive only into late childhood or adolescence.

Ceroid lipofuscinosis – Neuronal 9

Ceroid lipofuscinosis - Neuronal 9 (also known as CLN9) is a rare metabolic disorder that affects the nerve cells of the body and is characterized by the deposits of lipopigments (lipofuscin). Signs and symptoms of the condition generally develop in early childhood (average age 4 years) and may include loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (the loss of previously acquired skills). The underlying genetic cause of CLN9 is unknown but it appears to be inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.

Ceroid storage disease

A rare metabolic storage disease characterized by the abnormal deposits of a waxy substance called ceroid lipfuscin in various parts of the body such as the liver, spleen and intestinal lining.

Cerulean cataract

A type of cataract that occurs at birth or soon after and has a characteristic blue color with spoke-like opacities radiating from the centre of the lens.

Cervical intraepithelial neoplasia

Cervical intraepithelial neoplasia (CIN), is the potentially premalignant transformation and abnormal growth (dysplasia) of squamous cells on the surface of the cervix. CIN is not cancer, and is usually curable. Most cases of CIN remain stable, or are eliminated by the host's immune system without intervention. However a small percentage of cases progress to become cervical cancer, usually cervical squamous cell carcinoma (SCC), if left untreated. The major cause of CIN is chronic infection of the cervix with the sexually transmitted human papillomavirus (HPV), especially the high-risk HPV types 16 or 18. Over 100 types of HPV have been identified. About a dozen of these types appear to cause cervical dysplasia and may lead to the development of cervical cancer. Other types cause warts.

The earliest microscopic change corresponding to CIN is dysplasia of the epithelial or surface lining of the cervix, which is essentially undetectable by the woman. Cellular changes associated with HPV infection, such as koilocytes, are also commonly seen in CIN. CIN is usually discovered by a screening test, the Papanicolau or "Pap" smear. The purpose of this test is to detect potentially precancerous changes. Pap smear results may be reported using the Bethesda System. An abnormal Pap smear result may lead to a recommendation for colposcopy of the cervix, during which the cervix is examined under magnification. A biopsy is taken of any abnormal appearing areas. Cervical dysplasia can be diagnosed by biopsy.

Cervical ribs sprengel anomaly anal atresia urethral obstruction

A rare disorder characterized mainly by kidney and urinary system abnormalities, scoliosis and omphalocele. The features of the disorder are variable with male cases tending to be more severe than female cases. Only a few cases of this condition have been reported.

Cervicooculoacoustic syndrome

A rare genetic disorder characterized by ocular palsy, congenital perceptive deafness and fusion of the vertebrae in the neck.

Chagas disease

Chagas disease (American trypanosomiasis), is a tropical parasitic disease caused by the protozoan Trypanosoma cruzi. It is spread mostly by insects known as Triatominae or kissing bugs. The symptoms change over the course of the infection. In the early stage, symptoms are typically either not present or mild, and may include fever, swollen lymph nodes, headaches, or local swelling at the site of the bite. After 8–12 weeks, individuals enter the chronic phase of disease and in 60–70% it never produces further symptoms. The other 30 to 40% of people develop further symptoms 10 to 30 years after the initial infection, including enlargement of the ventricles of the heart in 20 to 30%, leading to heart failure. An enlarged esophagus or an enlarged colon may also occur in 10% of people.

T. cruzi is commonly spread to humans and other mammals by the blood-sucking "kissing bugs" of the subfamily Triatominae. These insects are known by a number of local names, including: vinchuca in Argentina, Bolivia, Chile and Paraguay, barbeiro (the barber) in Brazil, pito in Colombia, chinche in Central America, and chipo in Venezuela. The disease may also be spread through blood transfusion, organ transplantation, eating food contaminated with the parasites, and by vertical transmission (from a mother to her fetus). Diagnosis of early disease is by finding the parasite in the blood using a microscope. Chronic disease is diagnosed by finding antibodies for T. cruzi in the blood.

Prevention mostly involves eliminating kissing bugs and avoiding their bites. Other preventative efforts include screening blood used for transfusions. A vaccine has not been developed as of 2013. Early infections are treatable with the medication benznidazole or nifurtimox. Medication nearly always results in a cure if given early, but becomes less effective the longer a person has had Chagas disease. When used in chronic disease, medication may delay or prevent the development of end–stage symptoms. Benznidazole and nifurtimox cause temporary side effects in up to 40% of people including skin disorders, brain toxicity, and digestive system irritation.

It is estimated that 7 to 8 million people, mostly in Mexico, Central America and South America, have Chagas disease as of 2013. In 2006, Chagas was estimated to result in 12,500 deaths per year. Most people with the disease are poor, and most people with the disease do not realize they are infected. Large-scale population movements have increased the areas where Chagas disease is found and these include many European countries and the United States. These areas have also seen an increase in the years up to 2014.[9] The disease was first described in 1909 by Carlos Chagas after whom it is named. It affects more than 150 other animals.

Chalazion

Slow-growing swelling of the upper or lower eyelid usually caused by a blockage in the oil glands in the eyelid.

Chancroid

Chancroid (also known as soft chancre and ulcus molle ) is a bacterial sexually transmitted infection characterized by painful sores on the genitalia. Chancroid is known to spread from one individual to another solely through sexual contact.

Chandler’s syndrome

A very rare eye disorder characterized by progressive corneal dystrophy and glaucoma which result in loss of vision.

CHANDS

A rare syndrome characterized mainly by fused eyelids, curly hair and abnormal nails.

Chang Davidson Carlson syndrome

(medical condition): A very rare syndrome characterized by eye disease (retinal pigmentosa) and the absence of puberty caused by a deficiency of hormones that stimulate the sex organs (gonads) into producing the hormones that initiate puberty.

Chaotic atrial tachycardia

Abnormal irregular, rapid heart beat that originates in the atrial heart chamber of the heart and occurs in infants and young children. The heart has periods of normal rhythm between the periods of irregularity. The condition occurs in infants and young children but may also occur in adults who have disorders such as chronic obstructive pulmonary disease

CHAPLE disease

CHAPLE—which stands for complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy—is an inherited immune disease that causes the complement system (the part of your immune system that defends the body against injury and foreign invaders like bacteria and viruses) to become overactive.

Char syndrome

A very rare genetic disorder characterized mainly by an unusual facial appearance, abnormal little fingers and a heart abnormality.

Charcot Marie Tooth disease deafness recessive type

CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4D is inherited recessively and is caused by a defected in a gene in chromosome 8 and is a severe form of the disease that also involves deafness.

Charcot-Marie-Tooth disease

Charcot–Marie–Tooth disease (CMT), is a genetically and clinically heterogeneous group of inherited disorders of the peripheral nervous system characterised by progressive loss of muscle tissue and touch sensation across various parts of the body. Currently incurable, this disease is the most commonly inherited neurological disorder, and affects approximately 1 in 2,500 people equating to approximately 26,000 people in the United Kingdom and 128,000 people in the United States. CMT was previously classified as a subtype of muscular dystrophy.

Charcot-Marie-Tooth disease and deafness

CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4D is inherited recessively and is caused by a defected in a gene in chromosome 8 and is a severe form of the disease that also involves deafness.

Charcot-Marie-Tooth disease type 2S

A rare subtype of axonal hereditary motor and sensory neuropathy characterized by progressive distal muscle weakness and atrophy of both the lower and upper limbs, absent or reduced deep tendon reflexes, mild sensory loss, foot drop, and pes cavus leading eventually to wheelchair dependance. Some patients present with early hypotonia and delayed motor development. Scoliosis and variable autonomic disturbances may be associated.

Charcot-Marie-Tooth disease with ptosis and parkinsonism

CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. This particular type of CMT also involves a drooping upper eyelid and parkinsonism.