TaoMedAI/RareMedData huggingface dataset:
Multiple system atrophy, cerebellar type (ORPHA:227510)
Multiple system atrophy, cerebellar type (MSA-c) is a form of multiple system atrophy (MSA; see this term) with predominant cerebellar features (gait and limb ataxia, oculomotor dysfunction, and dysarthria).
Epidemiology
MSA-c is observed predominantly in patients from Asia. A Japanese study reported a high percentage of patients (83.8%) exhibiting MSA-c features with only 16.2% of patients being categorized as MSA-parkinsonian type (MSA-p; see this term). In the Western Hemisphere, one third of all MSA patients have MSA-c. Genders are equally distributed.
Clinical description
The mean age of disease onset is 55 to 60 years. Gait ataxia is the most typical early symptom of MSA-c. Autonomic dysfunction (bladder dysfunction including early urinary incontinence, orthostatic hypotension, constipation, Raynaud syndrome) occurs early and is mandatory for the diagnosis of MSA-c. Additional features of MSA-c include dysphonia, dysphagia and other cerebellar features including limb ataxia and occulomotor dysfunction (sustained gaze-evoked nystagmus, positional down-beat nystagmus). All patients develop at least some parkinsonian signs (bradykinesia, rigidity, irregular jerky postural tremor) in the course of the disease. Pyramidal signs (generalized hyper-reflexia and, in some cases, positive Babinski sign) may be observed. Respiratory disturbances (sleep apnea, stridor and inspiratory sighs) and night time sleep disturbances, including rapid eye movement (REM) sleep behavior disorder (RBD) and periodic limb movements in sleep (PLMS), are frequently observed.
Etiology
The exact etiology of MSC-c is unknown while the presence of cytoplasmic aggregates of α-synuclein, primarily in the oligodendroglia, in combination with predominant neurodegeneration of the olivopontocerebellar structures are pathological hallmark features of MSA-c. Mutations in the COQ2 gene (4q21.23 ) (encoding an enzyme involved in the biosynthesis of coenzyme Q10) have been shown in multiplex families with MSA, while some variants were associated with an increased for sporadic MSA.
Genetic counseling
MSA-c occurs sporadically. However, some familial cases of MSA have been described.

                            Last update: 
                            January 2014


                            - Expert reviewer(s): 
                            Pr Wassilios MEISSNER
Multiple system atrophy, parkinsonian type (ORPHA:98933)
Multiple system atrophy, parkinsonian type (MSA-p) is a form of multiple system atrophy (MSA; see this term) with predominant parkinsonian features (bradykinesia, rigidity, irregular jerky postural tremor, and postural instability).
Epidemiology
MSA-p is observed predominantly in patients from the Western Hemisphere. 68% of MSA cases are MSA-p. Genders are equally distributed.
Clinical description
The mean age of disease onset is 55 to 60 years. MSA-p is characterized by parkinsonism (bradykinesia, rigidity, irregular jerky tremor and postural instability) and autonomic failure in the form of bladder dysfunction (including early urinary incontinence) and/or orthostatic hypotension. The presence of autonomic failure is mandatory for the diagnosis of MSA-p. Additional features include dysphonia, dysphagia and other autonomic features (respiratory disturbances such as sleep apnea, stridor and inspiratory sighs, as well as constipation and sexual dysfunction). In the course of the disease, all patients with MSA-p display at least some cerebellar signs (gait and limb ataxia, oculomotor dysfunction, dysarthria). Abnormal postures (camptocormia (see this term), Pisa syndrome and disproportionate antecollis) are frequently observed. Neuropsychiatric features and sleep disturbances may be observed and include: rapid eye movement (REM) sleep behavior disorder (RBD), periodic limb movements in sleep (PLMS), depression, apathy and anxiety. In some cases, pyramidal signs (generalized hyper-reflexia with a positive Babinski sign) may also be observed. Patients with MSA-p may develop early-onset levodopa-induced orofacial and craniocervical dystonia.
Etiology
The exact etiology of MSA-p is still unknown but the presence of cytoplasmic aggregates of α-synuclein, primarily in oligodendroglia, in combination with predominant neurodegeneration of the striatonigral pathway are the pathological hallmark features of MSA-p. Mutations in the COQ2 gene (4q21.23) (encoding an enzyme involved in the biosynthesis of coenzyme Q10) have been shown in multiplex families with MSA, while some variants were associated with an increased risk for sporadic MSA.
Genetic counseling
MSA-p occurs sporadically. However, some familial cases of MSA have been described.

                            Last update: 
                            January 2014


                            - Expert reviewer(s): 
                            Pr Wassilios MEISSNER
Multisystem inflammatory syndrome in children and adults (ORPHA:598363)
A rare systemic disease characterized by a life-threatening hyperinflammatory state several weeks after infection with SARS-CoV-2, predominantly occurring in children. The primary infection is typically mild or asymptomatic, and patients are generally previously healthy individuals. Typical presenting signs and symptoms are persistent fever, gastrointestinal symptoms, mucocutaneous inflammation, lymphopenia, and high levels of circulating inflammatory markers. Some patients develop severe disease with cardiac involvement, hypotension, and shock. Presentation is similar in adults, although the severity of cardiac dysfunction, incidence of thrombosis, and mortality may be higher.
Multisystemic smooth muscle dysfunction syndrome (ORPHA:404463)
A rare, genetic, vascular disease characterized by congenital dysfunction of smooth muscle throughout the body, manifesting with cerebrovascular disease, aortic anomalies, intestinal hypoperistalsis, hypotonic bladder, and pulmonary hypertension. Congenital mid-dilated pupils non-reactive to light associated with a large, persistent patent ductus arteriosus are characteristic hallmarks of the disease.
Murine typhus (ORPHA:83315)
A Rickettsial disease characterized by headache, fever and macular or maculopapular rash, with only one-third of patients manifesting all three symptoms. Other common symptoms are chills, malaise, stomach pain, myalgia, loss of appetite, and in some cases confusion and altered level of consciousness. Classical laboratory abnormalities include elevated liver enzymes, lactate dehydrogenase, erythrocyte sedimentation rate and hypoalbuminemia. In children, typical symptoms occur in only half of patients, and abdominal pain, diarrhea, sore throat and anemia are more common.
Muscle filaminopathy (ORPHA:171445)
Muscle filaminopathy is a rare myofibrillar myopathy characterized by slowly progressive, proximal skeletal muscle weakness, which is initially more prominent in lower extremities and involves upper extremities with disease progression. Patients present with difficulty climbing stairs, a waddling gait, marked winging of scapula, lower back pain, paresis of limb girdle musculature, hypo-/areflexia and/or mild facial muscle weakness in rare cases. Respiratory muscle weakness is common and cardiac anomalies (conduction blocks, tachycardia, diastolic dysfunction, left ventricular hypertrophy) have been reported in some cases.
Muscle-eye-brain disease with bilateral multicystic leucodystrophy (ORPHA:370997)
A rare congenital muscular alpha-dystroglycanopathy with brain and eye anomalies disease characterized by a severe muscle-eye-brain disease-like phenotype associated with intellectual disability, muscular dystrophy, macrocephaly and extended bilateral multicystic white matter disease.
Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome (ORPHA:2579)
A rare hereditary ataxia characterized by neurogenic muscular atrophy associated with signs of cerebellar ataxia, hypesthesia, degeneration of the retina, and diabetes mellitus. Onset of the disease is in adolescence and the course is slowly progressive. There have been no further descriptions in the literature since 1983.
Muscular dystrophy, Selcen type (ORPHA:199340)
Selcen type muscular dystrophy is characterized by progressive limb and axial muscle weakness associated with cardiomyopathy and severe respiratory insufficiency during adolescence. The disease manifests during childhood and progresses rapidly.
Epidemiology
To date, three cases have been described.
Clinical description
Two patients presented with a rigid spine and one a peripheral neuropathy. Disintegration of Z disks, extensive accumulation of granular debris and larger inclusions, and apoptosis of a small fraction of the nuclei characterize the disease.
Etiology
The disease is due to a mutation in the BAG3 gene, encoding a protein localized to the Z disk.
Genetic counseling
Transmission is autosomal dominant.

                            Last update: 
                            October 2009
Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome (ORPHA:324416)
Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome is a rare genetic disease characterized by symmetrical muscular hypertrophy, hepatomegaly, polyhydramnios, macrocephaly and mild delay in motor, speech and language development.
Muscular pseudohypertrophy-hypothyroidism syndrome (ORPHA:2349)
Muscular pseudohypertropy - hypothyroidism, also known as Kocher-Debre-Semelaigne syndrome is a rare disorder characterized by pseudohypertrophy of muscles due to longstanding hypothyroidism (see this term).
Epidemiology
Prevalence is unknown.
Clinical description
The syndrome usually presents between 18 months and 10 years but has been reported at earlier ages including during the neonatal period. Patients present with clinical features of hypothyroidism, including decreased activity and increased sleep, feeding difficulty and constipation, prolonged jaundice, myxedematous facies, large fontanels (especially posterior), macroglossia, a distended abdomen with umbilical hernia, and hypotonia, along with muscle pseudohypertrophy. Pseudohypertrophy involves the muscles of the extremities, limb girdle, trunk, hands and feet but is more prominent in the limbs, resulting in an athletic appearance.
Etiology
The etiology of the muscle pseudohypertrophy is not known but it is thought to be a result of long standing hypothyroidism. Hypothyroidism, or thyroid hormone deficiency, may be congenital and may be permanent or transient (see these terms).
Diagnostic methods
Diagnosis is based on the presence of clinical features and myopathic changes. In countries with newborn screening programs (with either a primary thyroxine (T4)-follow-up thyroid-stimulating hormone (TSH) or primary TSH test), infants with congenital hypothyroidism are diagnosed after detection by screening tests.
Management and treatment
Treatment is based on thyroid supplements. With treatment, reversal of the pseudohypertrophy and clinical symptoms is possible.

                            Last update: 
                            August 2010


                            - Expert reviewer(s): 
                            Dr Stephen LAFRANCHI  - Dr Maynika RASTOGI
Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
A rare systemic disease characterized by congenital multiple contractures, characteristic craniofacial features (like large fontanel, hypertelorism, downslanting palpebral fissures, blue sclerae, ear deformities, high palate) evident at birth or in early infancy, and characteristic cutaneous features like skin hyperextensibility, skin fragility with atrophic scars, easy bruising, and increased palmar wrinkling. Additional features include recurrent/chronic dislocations, chest and spinal deformities, peculiarly shaped fingers, colonic diverticula, pneumothorax, and urogenital and ophthalmological abnormalities, among others. Molecular testing is obligatory to confirm the diagnosis.
Mutilating hereditary sensory neuropathy with spastic paraplegia (ORPHA:139578)
A rare genetic neurological disorder characterized by infantile to childhood onset of progressive sensory neuropathy in association with spastic paraplegia and mutilating acropathy. Patients present lower limb spasticity and progressive severe sensory loss leading to chronic ulcerations in both upper and lower limbs. Electrophysiological studies are consistent with axonal sensory neuropathy, and nerve biopsy shows axonopathy with loss of myelinated nerve fibers of all diameters as well as of unmyelinated axons.
Mutilating palmoplantar keratoderma with periorificial keratotic plaques (ORPHA:659)
A hereditary palmoplantar keratoderma characterized by the combination of bilateral mutilating transgredient palmoplantar keratoderma and periorificial keratotic plaques.
Myalgia-eosinophilia syndrome associated with tryptophan (ORPHA:2582)
Myalgia-eosinophilia syndrome associated with tryptophan is a rare systemic disease characterized by severe myalgia and peripheral eosinophilia associated with tryptophan dietary supplementation. The symptoms do not subside after tryptophan discontinuation. Clinical presentation includes muscle tenderness and cramps, fatigue, weakness, paresthesia, peripheral edema, arthralgia, dyspnea, skin rash, dry mouth, and development of scleroderma-like skin abnormalities.
Myasthenia gravis (ORPHA:589)
Myasthenia gravis (MG) is a rare, clinically heterogeneous, autoimmune disorder of the neuromuscular junction characterized by fatigable weakness of voluntary muscles.
Epidemiology
The prevalence is estimated to be 1/5,000 and the incidence to be 1/250,000 to 1/33,000 in Europe. MG affects both males and females: mainly females before the age of 40 years and males and females equally after the age of 50 years.
Clinical description
Myasthenia gravis can develop at any age but there is a bimodal peak in the age of onset in the adult-onset form, with primarily female patients before 40 years of age, and primarily males after 50 years of age (adult-onset myasthenia gravis; see this term). Patients have fluctuating weakness, worsening with repetitive activities, heat and stress while improving with rest and with involvement of skeletal muscle groups of ocular, bulbar, extremities and neck. Ocular manifestations include fluctuating diplopia and ptosis. Bulbar involvement may manifest with fatigable chewing, dysphagia and dysarthria. Some patients develop generalized muscle weakness, which may become serious with respiratory muscle weakness. In the juvenile form, onset is before 18 years of age (juvenile myasthenia gravis; see this term) and patients also present with ocular and possibly generalized muscle weakness. A transient neonatal form causing hypotonia and feeding difficulties occurs in some newborns born to mothers with MG (transient neonatal myasthenia gravis; see this term). Congenital genetic forms of MG with a different pathogenesis also occur (congenital myasthenic syndrome, see this term).
Etiology
The exact pathogenesis is not known but MG is related to circulating antibodies to various muscle receptors, including acetylcholine receptor (AChR) and muscle-specific receptor tyrosine kinase (MuSK). Another target, the low density lipoprotein receptor-related protein 4 (LRP4), has been also described. The thymus is thought to trigger antibody production in the form with anti-AChR antibodies. These antibodies have been found to play a pathogenic role in all the forms of the disease. MG can also be drug induced (by D-penicillamine, interferon alpha, and bone marrow transplantation). An initial infection (EBV) may be responsible for some cases of MG. The role of infections has been strongly suggested by evidence of the involvement of interferon type I in the disease, but direct evidence is lacking.

                            Last update: 
                            November 2014


                            - Expert reviewer(s): 
                            Dr Sonia BERRIH-AKNIN  - Pr Bruno EYMARD
MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome (ORPHA:498693)
A rare arthrogryposis syndrome characterized by arthrogryposis multiplex congenita with contractures involving multiple joints of the upper and lower limbs, camptodactyly of fingers and toes, skeletal abnormalities such as scoliosis and pectus excavatum, as well as variable speech and motor delay and hypotonia. Facial dysmorphism includes long eyelashes, periorbital fullness, ptosis, epicanthal folds, high arched/cleft palate, and micrognathia.
Mycetoma (ORPHA:2583)
Subcutaneous inflammatory pseudotumors containing fungal or actinomycetic (bacteria with branched filaments) granules or grains.
Epidemiology
Annual incidence is unknown. The condition is endemic in the northern tropical zone and was first described by McGill in the area of Madura (hence the term 'Madura foot') during the last century.
Clinical description
The typical characteristic of fungal mycetomas is a painless tumefaction slowly forming on the foot with fistulae that release grains. Actinomycetic mycetomas are more frequent in Latin America and are more likely to cause inflammatory and painful tumefactions with many fistulae and grains. In both cases, the underlying bone is often affected.
Etiology
The agents causing mycetoma are very common saprophytes that are found in the soil and on thorny shrubs in semi-desert climates. Humans are infected as the result of localized skin trauma (implantation of a needle or wood splinter) or through a pre-existing wound.
Diagnostic methods
Diagnosis is made by microscopic examination of the grains and by analysis of cultures.
Differential diagnosis
Differential diagnoses include tumefactions of other origins.
Management and treatment
Medical treatment with sulfones can cure actinomycetic mycetomas, whereas surgery is the main treatment for fungal mycetomas. Prophylaxis consists of disinfecting wounds and wearing shoes.
Prognosis
The prognosis is poor for fungal mycetomas.

                            Last update: 
                            October 2008


                            - Expert reviewer(s): 
                            Dr Annick DATRY
Mycoplasma encephalitis (ORPHA:83482)
Mycoplasma encephalitis is a rare infectious encephalitis characterized by an acute onset of neurological signs and symptoms (e.g. altered consciousness, seizures, headaches, meningeal signs, behavioral changes) due to bacterial infection by Mycoplasma pneumoniae. Patients typically present unspecific signs and symptoms, such as fever, nausea, vomiting, fatigue, prior to onset of neurological manifestations and frequently have a history of a respiratory tract infection (e.g. pneumonia, bronchiolitis, pharyngitis).
Mycosis fungoides and variants (ORPHA:178566)
A group of disorders including the most common forms of cutaneous T-cell lymphomas. The term Mycosis fungoides (MF) is restricted to the classical form characterized by the slow progression of patches, plaques and tumors, and to variants with a similar indolent course.
Epidemiology
The annual incidence is estimated at between 1/350,000 and 1/110,000. The male to female ratio is 2:1. MF and its variants typically occur in adults and the elderly.
Clinical description
Besides "classical" MF (Alibert-Bazin type), three distinct variants have been considered as sufficiently distinct to be included in the WHO-EORTC (European organisation for research and treatment of cancer) classification of cutaneous lymphomas: follicular mycosis fungoides, characterized by pilotropic lesions with or without deposition of mucin within the hair follicles; pagetoid reticulosis, characterized by localized lesions with intraepidermal proliferation of neoplastic T-cells usually involving the extremities; and granulomatous slack skin, characterized by areas of pendulous lax skin predominantly in the major skin folds (see these terms). Patches are often hypo- or hyperpigmented in dark-skinned individuals. Pruritus may be present, particularly in cases of folliculotropic MF. Extracutaneous involvement may occur in classical MF.
Etiology
The etiology remains unknown.
Diagnostic methods
The diagnosis is based on clinical presentation and should be confirmed by a skin biopsy.
Differential diagnosis
Differential diagnoses include inflammatory dermatoses (i.e. atopic dermatitis) in the early stages of MF, and other large cell non-Hodgkin lymphomas (see this term) in later stages.
Management and treatment
Management in the early stages includes mainly PUVA (photochemotherapy), interferon alpha-2a, retinoids, topical chemotherapy, and topical steroids. Total body electron beam irradiation may be used in case of severe forms of the disease. A variety of more aggressive treatments have been used for advanced stages of MF.
Prognosis
MF and its variants are slowly progressive. The prognosis depends on the type of MF but is usually favorable.

                            Last update: 
                            June 2009


                            - Expert reviewer(s): 
                            Pr Lorenzo CERRONI
Myelocystocele (ORPHA:268813)
A rare closed neural tube defect characterized by cystic dilatation of the central canal of the spinal cord, herniating through a posterior vertebral arch defect (spina bifida) into an expanded cerebrospinal fluid (CSF) filled dural sac (meningocele). It can be located at the caudal part of the spinal cord (terminal myelocystocele) or above conus (non terminal myelocystocele).
Myelodysplastic neoplasm with increased blasts type 1 (ORPHA:100019)
A severe type of RAEB characterized by cytopenias and the following hematological parameters: uni- or multilineage dysplasia, 5% to 9% blasts in bone marrow or 2% to 4% in peripheral blood, and no Auer rods (abnormal, needle-shaped or round inclusions in the cytoplasm of myeloblasts and promyelocytes). Median survival has been reported to be 18 months.
Myelodysplastic neoplasm with increased blasts type 2 (ORPHA:100020)
A very severe type of RAEB characterized by cytopenias and the following hematological parameters: uni- or multilineage dysplasia, 10% to 19% blasts in bone marrow or 5% to 19% in peripheral blood, variable presence of Auer rods (abnormal, needle-shaped or round inclusions in the cytoplasm of myeloblasts and promyelocytes). Median survival has been reported to be 18 months.
Myelodysplastic neoplasm with increased blasts (ORPHA:86839)
Refractory anemia with excess blasts (RAEB) is a frequent severe subtype of myelodysplastic syndrome (MDS; see this term) characterized by cytopenias with unilineage or multilineage dysplasia and 5% to 19% blasts in bone marrow or blood.
Epidemiology
Exact prevalence is unknown but RAEB accounts for about 40% of patients with MDS which has a prevalence estimated to be 1/25,000 to 1/33,000. The disease tends to occur in older adults with a male predominance.
Clinical description
Two types of RAEB are recognized: type 1 and type 2 (RAEB-1 and RAEB-2; see these terms) which are differentiated based on the percentage of blasts in bone marrow or blood. Patients usually present with symptoms related to one or more cytopenias. Survival is lower in patients with RAEB-2 and there is a higher rate of transformation into acute myeloid leukemia in these patients. Most RAEB patients die from neutropenia-, thrombocytopenia- and anemia-related complications.
Etiology
The etiology is not known but is thought to involve inherited susceptibility or hematopoietic stem cell damage.

                            Last update: 
                            February 2015