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Arthrogryposis renal dysfunction cholestasis syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2697DefinitionA rare, multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity.EpidemiologyThe prevalence is unknown but less than 100 patients have been reported in the literature…
Lichen planopilaris
Lichen planopilaris (LPP) affects the scalp and hair. It is a form of lichen planus, an inflammatory condition affecting the skin and mucous membranes. Symptoms may include scaly skin and redness around hair follicles, bald patches, and pain, burning, or itching on the scalp. Tiny, red bumps (papules) may appear around hair clusters. LLP can cause…
Gordon syndrome
Gordon Syndrome is a rare, inherited disorder that affects movement in the joints of the upper and lower limbs, also known as distal arthrogryposis. People with this disorder can be born with several fingers fixed in a flexed position (camptodactyly), clubfoot, and an opening in the roof of the mouth (cleft palate). Their joints are…
Freiberg’s disease
Freiberg’s disease is rare condition that primarily affects the second or third metatarsal (the long bones of the foot). Although people of all ages can be affected by this condition, Freiberg’s disease is most commonly diagnosed during adolescence through the second decade of life. Common signs and symptoms include pain and stiffness in the front…
Kohler disease
Kohler disease is a condition that affects a bone at the arch of the foot called the tarsal navicular bone. X-rays show that this bone is initially compressed and later breaks into pieces before healing and hardening back into bone. It occurs most frequently in children between the ages of 5 and 10 years. Signs and…
Opsoclonus-myoclonus syndrome
Opsoclonus-myoclonus syndrome (OMS) is a rare disorder that affects the nervous system. Symptoms include rapid, multi-directional eye movements (opsoclonus), quick, involuntary muscle jerks (myoclonus), uncoordinated movement (ataxia), irritability, and sleep disturbance. The onset of OMS is usually abrupt and often severe. The disease may become chronic.[1] OMS typically occurs in association with tumors (neuroblastomas), or…
Gardner-Diamond syndrome
Gardner-Diamond syndrome (GDS) is a rare condition characterized by episodes of unexplained, painful bruising that mostly occurs on the arms, legs, and/or face. It is most common in Caucasian women who have mental illness or emotional stress. Symptoms typically include the formation of multiple, small, purple bruises that may be associated with burning, redness and…
Radioulnar synostosis-microcephaly-scoliosis syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3268 Definition Radioulnar synostosismicrocephalyscoliosis syndrome, also known as Guiffré-Tsukahara syndrome, is an extremely rare syndrome characterized by the association of radioulnar synostosis with microcephaly, scoliosis, short stature and intellectual deficit. Visit the Orphanet disease page…
Severe congenital neutropenia autosomal dominant
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Polyembryoma
Polyembryoma is a type of tumor that develops from the cells of the gonads (testes in men or ovaries in women). Such tumors are called germ cell tumors. Polyembryomas have a distinctive look because they are composed of many parts that are shaped like embryos, one of the earliest stages of a developing human during pregnancy.[1] Symptoms of a…
Autosomal recessive pseudohypoaldosteronism type 1
Autosomal recessive pseudohypoaldosteronism type 1 is a disorder of electrolyte metabolism characterized by excess loss of salt in the urine and high concentrations of sodium in sweat, stool, and saliva. The disorder involves multiple organ systems and is especially dangerous in the newborn period. Laboratory tests may show hyponatremia, hyperkalemia, and increased plasma renin activity with high levels of aldosterone in the…
Hemochromatosis type 2
Hemochromatosis type 2 is a disease in which too much iron builds up in the body. This is also called iron overload. Accumulation of iron in the organs is toxic and can cause organ damage. While many organs can be affected, iron overload is especially likely to affect the liver, heart, and pancreas. Symptoms of…
Baller-Gerold syndrome
Baller-Gerold syndrome (BGS) is a rare condition primarily affecting the way the bones of the skull and limbs grow. Features include premature fusion of specific skull bones (craniosynostosis) and underdevelopment of the bones in the arms and hands (radial ray anomalies). In addition, they may have a characteristic skin condition that includes patches of discoloration…
Non-A-E hepatitis
Non-A-E hepatitis, sometimes referred to as hepatitis X, is a disease of the liver that is diagnosed when there is swelling of the liver (hepatitis) but examination and testing does not identify a cause. Symptoms of non-A-E hepatitis may include feeling tired or unwell (malaise), nausea, vomiting, pain in the abdomen, and fever. Non-A-E hepatitis usually…
Hermansky Pudlak syndrome 2
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 183678 Definition Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia. Epidemiology To date HPS-2 has been described…
Becker’s nevus
Becker’s nevus is a non-cancerous, large, brown birthmark occurring mostly in males. It can be present at birth, but is usually first noticed around puberty. It typically occurs on one shoulder and upper trunk but occasionally occurs elsewhere on the body. A Becker’s nevus often becomes darker, and excessive hair growth (hypertrichosis) and acne may develop…
Multiple symmetric lipomatosis
Multiple symmetric lipomatosis is a rare condition characterized by the symmetric growth of fatty tumors (lipomas) around the neck, shoulders, upper arms and/or upper trunk.[1] It most often affects men of Mediterranean ancestry between the ages of 30 and 70 who have a history of alcohol abuse. Non-alcoholics and women can also be affected. The…
Hydroxyprolinemia
Hydroxyprolinemia is an inherited metabolic condition characterized by elevated levels of the amino acid hydroxyproline in the blood and urine. This condition usually does not cause physical or cognitive abnormalities. Hydroxyprolinemia was initially described in association with intellectual disabilities; however it has also been reported in cognitively normal individuals and is thus thought to be begnin. Hydroxyprolinemia…
Facial ectodermal dysplasia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1807 Definition Focal facial dermal dysplasia type III (FFDD3) is a rare focal facial dermal dysplasia (FFDD; see this term), characterized primarily by congenital bitemporal scar-like depressions and a typical, but variable facial dysmorphism, which…
Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 59303 Definition Neonatal ichthyosis-sclerosing cholangitis (NISCH syndrome) is a very rare complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis. Epidemiology Less than ten patients (from unrelated consanguineous Moroccan families and…
Pemphigus foliaceus
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79481 Definition A rare superficial pemphigus disease characterized by multiple, pruritic, scaly, crusted cutaneous erosions, with flaky circumscribed patches, localized mostly on the face, scalp, trunk and extremities, often presenting an erythematous base. Mucosal involvement…
Porencephaly cerebellar hypoplasia internal malformations
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Brachydactyly type E
Brachydactyly type E is a genetic disorder that causes some of the bones of the hands or feet to be shorter than expected. Other signs of the disorder may include having very flexible joints (hyperextensibility) in the hands and being shorter than family members who do not have the disorder (short stature).[1][2] Brachydactyly type E…
Brain dopamine-serotonin vesicular transport disease
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 352649 Definition A rare infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances. Epidemiology The prevalence is unknown. It has been described in 8 patients from one Saudi Arabian…
Juberg Marsidi syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93972 Definition An X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies). Epidemiology Prevalence is unknown but since its…
Monoamine oxidase A deficiency
Monoamine oxidase A deficiency is a rare condition that is characterized by mild intellectual disability and behavioral difficulties (including aggressive and sometimes violent behaviors and autistic features). Affected people may also experience night terrors, tremor, stereotypical hand movements, and/or occasional body twitches. Signs and symptoms generally develop in childhood and the condition is seen almost…
Pancreatic neuroendocrine tumor
A pancreatic neuroendocrine tumor, also called an islet cell tumor, is a type of neuroendocrine tumor (NET) that typically arises in the pancreas. However in some cases, a pancreatic NET occurs outside of the pancreas. A NET arises from cells that produce hormones, so the tumor can also produce hormones.[1] It may be benign (not…
Weaver syndrome
Weaver syndrome is a rare condition that is characterized primarily by tall stature. Other signs and symptoms of the condition may include macrocephaly (unusually large head size); intellectual disability; distinctive facial features; camptodactyly (permanently bent digits) of the fingers and/or toes; poor coordination; soft and doughy skin; umbilical hernia; abnormal muscle tone; and a hoarse, low-pitched…
Keutel syndrome
Keutel syndrome is an inherited condition characterized by cartilage calcification in the ears, nose, larnyx, trachea (voice box), and ribs; pulmonary artery stenoses; brachytelephalangism (short fingers and nails that resemble drumsticks); and facial dysmorphism. Less than 30 cases have been reported in the literature. The majority of affected individuals have been diagnosed during childhood. Other associated…
Pterygium of the conjunctiva and cornea
Pterygium of the conjunctiva and cornea is a benign (non-cancerous) pink lesion that grows from the conjunctiva onto the cornea. They typically start from on the inner surface of the eye, and grow toward the the pupil. Long term exposure to ultraviolet light has been associated with causing this condition. Depending on the size of the pterygium, a person can experience vision problems. Surgical removal…
Carney complex
Carney complex is an inherited condition characterized by spotty skin pigmentation, cardiac (heart) myxomas (tumors composed of mucous connective tissue), skin myxomas, endocrine tumors or over-activity, and schwannomas. Some families with this condition have been found to have mutations in the PRKAR1A gene. Carney complex is believed to be inherited in an autosomal dominant manner, which means…
Rhizomelic chondrodysplasia punctata type 1
Rhizomelic chondrodysplasia punctata type 1 (RCDP1) is a condition that impairs the normal development of many parts of the body. The major features of this disorder include skeletal abnormalities, distinctive facial features, intellectual disability, and respiratory problems. The condition is caused by mutations in the PEX7 gene. It is inherited in an autosomal recessive pattern….
MPI-CDG (CDG-Ib)
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79319 Definition MPI-CDG is a form of congenital disorders of N-linked glycosylation, characterized by cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, gastrointestinal complications (protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin),…
Limb-girdle muscular dystrophy, type 2G
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 34514 Definition A mild subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable onset (ranging from infancy to adolescence) of progressive proximal upper and lower limb muscle weakness and atrophy. Mild scapular winging,…
Spinocerebellar ataxia 18
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 98771 Definition Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by sensory neuropathy and cerebellar ataxia. Epidemiology…
Lubinsky syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2410 Definition This syndrome is characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. It has been described in three brothers from a consanguineous family. Genetic counseling An autosomal recessive mode…
Lipoic acid synthetase deficiency
Lipoic acid synthetase deficiency is a rare condition that affects the mitochondria. Mitochondria are tiny structures found in almost every cell of the body. They are responsible for creating most of the energy necessary to sustain life and support growth. People affected by this condition generally experience early-onset lactic acidosis, severe encephalopathy, seizures, poor growth,…
Scleroderma
Scleroderma is an autoimmune disorder that may involve changes in the skin, blood vessels, muscles, and internal organs.[1] There are two main types: localized scleroderma, which affects only the skin; and systemic scleroderma, which affects the blood vessels and internal organs, as well as the skin.[2] These two main types also have sub-types. Localized scleroderma…
Sialuria, French type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3166 Definition Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal…
Lymphocytic colitis
Lymphocytic colitis is form of microscopic colitis, a condition that is characterized by inflammation of the colon (large intestines). As the name suggests, microscopic colitis can only be diagnosed by examining a small sample of colon tissue under a microscope. In lymphocytic colitis, specifically, the tissues and lining of the colon are of normal thickness,…
Cerebellum agenesis hydrocephaly
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1397 Definition A rare developmental defect during embryogenesis malformation syndrome characterized by congenital, non-communicating hydrocephalus, cerebellar agenesis and absence of the Luschka and Magendie foramina. Patients present with hypotonia, areflexia or hyporeflexia, seizures and/or cyanosis…
Madras motor neuron disease
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 137867 Definition Madras motor neuron disease (MMND) is characterized by weakness and atrophy of limbs, multiple lower cranial nerve palsies and sensorineural hearing loss. Epidemiology Less than 200 cases have be reported to date, predominantly…
Spinocerebellar ataxia with dysmorphism
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1185 Definition Spinocerebellar ataxia-dysmorphism is marked by characteristic facies associated with dysarthria, delayed psychomotor development, ataxia, scoliosis and foot deformities. Three cases have been described and transmission appears to be autosomal recessive. Visit the Orphanet…
Malignant mesothelioma
Malignant mesothelioma is a form of cancer that develops in the thin layer of tissue that surrounds the lungs, chest wall, or abdomen. Signs and symptoms of the condition can vary and often depend on which area of the body is affected. Common features include abdominal bloating, abdominal pain, chest pain, coughing, fatigue, shortness of…
Stiff skin syndrome
Stiff skin syndrome (SSS) is a rare syndrome characterized by hard, thick skin, usually on the entire body. The thickening of the skin can limit joint mobility and causes joints to be stuck in a bent position (flexion contractures).[1] The onset of signs and symptoms can range from presenting at birth through childhood.[2] Other signs…
Cheilitis glandularis
Cheilitis glandularis is a rare inflammatory disorder of the lip.[1] It is mainly characterized by swelling of the lip with hyperplasia of the salivary glands; secretion of a clear, thick mucus; and variable inflammation.[2] Enlargement and chronic exposure of the mucous membrane on the lower lip becomes affected by the environment, leading to erosion, ulceration, crusting, and,…
Metaphyseal chondrodysplasia Schmid type
Metaphyseal chondrodysplasia, Schmid type (MCDS) is a type of skeletal disorder in which there is abnormal bone formation at the end of the long bones (metaphyses). Symptoms include short stature with abnormally short arms and legs (short-limbed dwarfism) and bowed legs (genu varum). Additional signs and symptoms may include lumbar lordosis, leg pain, joint pain,…
Zunich neuroectodermal syndrome
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Thyrotoxic periodic paralysis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79102 Definition Thyrotoxic periodic paralysis (TPP) is a rare neurological disease characterized by recurrent episodes of paralysis and hypokalemia during a thyrotoxic state. Epidemiology It is most common in Asian males (with male-to-female ratios ranging…
Singleton-Merten syndrome
Singleton-Merten syndrome is a very rare disease that affect many organs. The main features are tooth abnormalities with gum infection; calcifications in the aorta artery and in certain valves of the heart (i.e., aortic and mitral valves); and progressive thinning and weakening of the bones (osteoporosis), especially in the upper and back portions of the skull. Other…
Ring chromosome 10
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1438 Definition An autosomal anomaly characterized by variable clinical features, depending on the size and precise location of deleted chromosome segments. Most patients present with developmental delay, intellectual disability, growth retardation, microcephaly, clinodactyly, and dysmorphic…
Monoclonal gammopathy of undetermined significance
Monoclonal gammopathy of undetermined significance (MGUS) is a condition in which an abnormal protein called monoclonal protein is detected in the blood. MGUS typically does not cause any problems, although some affected people may experience numbness, tingling or weakness. In some cases, MGUS may progress over time to certain forms of blood cancer (such as…
Vogt-Koyanagi-Harada disease
Vogt-Koyanagi-Harada disease (VKH disease) affects the eyes, ears, nervous system, and skin. The symptoms of VKH occur in different phases. The early symptoms include headaches, eye pain, and dizziness. These are followed by hearing loss and inflammation of the eye (panuveitis). Later symptoms include development of white patches of skin and hair (vitiligo), hair loss…
Syndromic microphthalmia-12
Syndromic microphthalmia-12 is a genetic syndrome with the main features of small eyeballs (microphthalmia), lungs that are too small (pulmonary hypoplasia), and a defect or hole in the diaphragm that allows the abdominal contents to move into the chest cavity (diaphragmatic hernia).[1] People with this syndrome also have progressive movement disorders that cause severe global…
Yemenite deaf-blind hypopigmentation syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3214 Definition Yemenite deaf-blind hypopigmentation syndrome is an exceedingly rare genetic disorder characterized by cutaneous pigmentation anomalies, ocular disorders and hearing loss. Epidemiology The syndrome was described in 1990 in two patients from the same…
Morvan’s fibrillary chorea
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 83467 Definition Morvan syndrome is a rare, life-threatening, acquired neurologic disease characterized by neuromyotonia, dysautonomia and encephalopathy with severe insomnia. Signs involving central (e.g. hallucinations, confusion, amnesia, myoclonus), autonomic (e.g. variations in blood pressure, hyperhidrosis)…
Chromosome 2q24 microdeletion syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1617 Definition 2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which…
Scheie syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93474 Definition Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development. Epidemiology Prevalence is estimated…
Chromosome 6p deletion
Chromosome 6p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 6. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often…
IgG4-related dacryoadenitis and sialadenitis
IgG4-related dacryoadenitis and sialoadenitis (formerly called Mikulicz disease) is an IgG4-related disease characterized by inflammation of the lacrimal glands (which produce tears), parotid glands, and submandibular glands (two of the major salivary glands).[1] In some cases, it also affects other glands or organs.[1][2] The condition is usually painless, mainly causing mouth and eye dryness, and swelling…
Myotonia congenita
Myotonia congenita is a genetic disease characterized by the inability of the skeletal muscles to quickly relax after voluntary movements. Symptoms typically begin in childhood and vary from person to person. They may include muscle stiffness, muscle weakness, and attacks of weakness brought on by movement after rest. There are two forms of myotonia congenita: Becker disease, which is…
Chronic progressive external ophthalmoplegia
Chronic progressive external ophthalmoplegia (CPEO) is a condition characterized mainly by a loss of the muscle functions involved in eye and eyelid movement. Signs and symptoms tend to begin in early adulthood and most commonly include weakness or paralysis of the muscles that move the eye (ophthalmoplegia) and drooping of the eyelids (ptosis).[1][2] Some affected…
Neonatal progeroid syndrome
Neonatal progeroid syndrome is a rare genetic syndrome characterized by an aged appearance at birth. Other signs and symptoms include intrauterine growth restriction, feeding difficulties, distinctive craniofacial features, hypotonia, developmental delay and mild to severe intellectual disability. In most cases, affected infants pass away before age 7 months, but rare reports exist of survival into…
Neuronal ceroid lipofuscinosis 6
Neuronal ceroid lipofuscinosis 6 (CLN6-NCL) is a rare condition that affects the nervous system. 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),…
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