Edema, and Spinal muscular atrophy

Diseases related with Edema and Spinal muscular atrophy

In the following list you will find some of the most common rare diseases related to Edema and Spinal muscular atrophy that can help you solving undiagnosed cases.

Top matches:

Lethal congenital contracture syndrome type 1 is a rare, genetic arthrogryposis syndrome characterized by total fetal akinesia (detectable since the 13th week of gestation) accompanied by hydrops, micrognathia, pulmonary hypoplasia, pterygia and multiple joint contractures (usually flexion contractures in the elbows and extension in the knees), leading invariably to death before the 32nd week of gestation. Lack of anterior horn motoneurons, severe atrophy of the ventral spinal cord and severe skeletal muscle hypoplasia are characteristic neuropathological findings, with no evidence of other organ structural anomalies.

LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 1 Is also known as herva disease|multiple contracture syndrome, finnish type|lccs|lccs1

Related symptoms:

  • Short stature
  • Hypertelorism
  • Micrognathia
  • Flexion contracture
  • Skeletal muscle atrophy


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 1

Buruli ulcer is an infectious disease prevalent in many tropical and subtropical regions caused by infection with Mycobacterium ulcerans. It is the third most frequent mycobacterial disease in humans worldwide, after tuberculosis (OMIM ) and leprosy (OMIM ). Lesions are most common on exposed parts of the body, especially the limbs. Buruli ulcer derives its name from a county in Uganda, East Africa, north of Kampala, where the disease was found in the late 1950s in hundreds of people living near marshes and riverine areas near the Nile River (Clancey et al., 1961; Barker, 1971). The disease was first described in the medical literature in 1948 in a report on patients in Australia (MacCallum et al., 1948). Patients have also been reported from tropical areas in Latin America and Asia (Stienstra et al., 2006; van der Werf et al., 2005).

BURULI ULCER, SUSCEPTIBILITY TO Is also known as mycobacterium ulcerans, susceptibility to

Related symptoms:

  • Edema


SOURCES: OMIM MENDELIAN

More info about BURULI ULCER, SUSCEPTIBILITY TO

Lethal congenital contracture syndrome type 3 is a rare arthrogryposis syndrome characterized by clinical features identical to Lethal congenital contracture syndrome type 2 (i.e. multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cells degeneration, skeletal muscle atrophy (mainly in the lower limbs), in the absence of hydrops, pterygia or bone fractures), but without bladder enlargement.

LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 3 Is also known as lccs3|multiple contracture syndrome, israeli bedouin type b

Related symptoms:

  • Flexion contracture
  • Skeletal muscle atrophy
  • Respiratory insufficiency
  • Edema
  • Arthrogryposis multiplex congenita


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 3

Other less relevant matches:

LETHAL ARTHROGRYPOSIS-ANTERIOR HORN CELL DISEASE SYNDROME Is also known as vuopala disease|laahd

Related symptoms:

  • Growth delay
  • Low-set ears
  • Flexion contracture
  • Intrauterine growth retardation
  • Skeletal muscle atrophy


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about LETHAL ARTHROGRYPOSIS-ANTERIOR HORN CELL DISEASE SYNDROME

Facioscapulohumeral muscular dystrophy (FSHD) is characterized by progressive muscle weakness with focal involvement of the facial, shoulder and limb muscles.

FACIOSCAPULOHUMERAL DYSTROPHY Is also known as fsh dystrophy|fshd|landouzy-dejerine myopathy|facioscapulohumeral muscular dystrophy|facioscapulohumeral myopathy

Related symptoms:

  • Sensorineural hearing impairment
  • Skeletal muscle atrophy
  • Abnormality of cardiovascular system morphology
  • Elevated serum creatine phosphokinase
  • Hyperlordosis


SOURCES: ORPHANET MENDELIAN

More info about FACIOSCAPULOHUMERAL DYSTROPHY

Autosomal dominant intermediate Charcot-Marie-Tooth disease type B is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with mild to moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings include asymptomatic neutropenia and early-onset cataracts.

AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE B Is also known as cmtdib|cmtdi1|charcot-marie-tooth neuropathy, dominant intermediate b|di-cmtb

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Cataract
  • Peripheral neuropathy
  • Gait disturbance


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE B

Low match MELORHEOSTOSIS

Melorheostosis is a rare connective tissue disorder characterized by a sclerosing bone dysplasia, usually limited to one side of the body (rarely bilateral), that manifests with pain, stiffness, joint contractures and deformities.

MELORHEOSTOSIS Is also known as mel

Related symptoms:

  • Failure to thrive
  • Pain
  • Flexion contracture
  • Hypertension
  • Skeletal muscle atrophy


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MELORHEOSTOSIS

Dehydrated hereditary stomatocytosis (DHS), also known as hereditary xerocytosis, is an autosomal dominant hemolytic anemia characterized by primary erythrocyte dehydration. DHS erythrocytes exhibit decreased total cation and potassium content that are not accompanied by a proportional net gain of sodium and water. DHS patients typically exhibit mild to moderate compensated hemolytic anemia, with an increased erythrocyte mean corpuscular hemoglobin concentration and a decreased osmotic fragility, both of which reflect cellular dehydration (summary by Zarychanski et al., 2012). Patients may also show perinatal edema and pseudohyperkalemia due to loss of K+ from red cells stored at room temperature. A minor proportion of red cells appear as stomatocytes on blood films. Complications such as splenomegaly and cholelithiasis, resulting from increased red cell trapping in the spleen and elevated bilirubin levels, respectively, may occur. The course of DHS is frequently associated with iron overload, which may lead to hepatosiderosis (summary by Albuisson et al., 2013).Dehydrated red blood cells, including those from hereditary xerocytosis patients, show delayed infection rates to Plasmodium in vitro, suggesting a potential protective mechanism against malaria (Tiffert et al., 2005). A polymorphism in PIEZO1 that is enriched in populations of African descent and results in xerocytosis conferred resistance to Plasmodium infection in vitro (see {611184.0016}).The 'leaky red blood cells' in familial pseudohyperkalemia show a temperature-dependent loss of potassium when stored at room temperature, manifesting as apparent hyperkalemia. The red blood cells show a reduced life span in vivo, but there is no frank hemolysis. Studies of cation content and transport show a marginal increase in permeability at 37 degrees C and a degree of cellular dehydration, qualitatively similar to the changes seen in dehydrated hereditary stomatocytosis. Physiologic studies show that the passive leak of potassium has an abnormal temperature dependence, such that the leak is less sensitive to temperature than that in normal cells (summary by Iolascon et al., 1999).Carella et al. (2004) noted that 3 clinical forms of pseudohyperkalemia unassociated with hematologic manifestations, based predominantly on the leak-temperature dependence curve, had been reported: (1) pseudohyperkalemia Edinburgh, in which the curve has a shallow slope; (2) pseudohyperkalemia Chiswick or Falkirk (see {609153}), in which the curve is shouldered; and (3) pseudohyperkalemia Cardiff (see {609153}), in which the temperature dependence of the leak shows a 'U-shaped' profile with a minimum at 23 degrees C. Gore et al. (2004) stated that potassium-flux temperature profiles are consistent both from year to year in an individual as well as consistent within affected members of a pedigree. Genetic Heterogeneity of Hereditary StomatocytosisDehydrated hereditary stomatocytosis-2 (DHS2 ) is caused by mutation in the KCNN4 gene (OMIM ) on chromosome 19q13. Another form of stomatocytosis, involving familial pseudohyperkalemia with minimal hematologic abnormalities (PSHK2 ), is caused by mutation in the ABCB6 gene (OMIM ) on chromosome 2q35. Cryohydrocytosis (CHC ) is caused by mutation in the SLC4A1 gene (OMIM ) on chromosome 17q21, and stomatin-deficient cryohydrocytosis with neurologic defects (SDCHCN ) is caused by mutation in the SLC2A1 gene (OMIM ) on chromosome 1p34. An overhydrated form of hereditary stomatocytosis (OHST ) is caused by mutation in the RHAG gene (OMIM ) on chromosome 6p12.See {137280} for a discussion of the association of familial stomatocytosis and hypertrophic gastritis in the dog, an autosomal recessive syndrome. ReviewsDelaunay (2004) reviewed genetic disorders of red cell membrane permeability to monovalent cations, noting 'inevitable' overlap between entities based on clinical phenotype.Bruce (2009) provided a review of hereditary stomatocytosis and cation-leaky red cells, stating that consistent features include hemolytic anemia, a monovalent cation leak, and changes in red cell morphology that appear to follow a continuum, from normal discocyte to stomatocyte to echinocyte in DHS, and from discocyte to stomatocyte to spherocyte to fragmentation in OHST. Bruce (2009) suggested that the underlying pathologic mechanism might involve misfolded mutant proteins that escape the quality control system of the cell and reach the red cell membrane, where they disrupt the red cell membrane structure and cause a cation leak that alters the hydration of the red cell, thereby changing the morphology and viability of the cell.King and Zanella (2013) provided an overview of 2 groups of nonimmune hereditary red cell membrane disorders caused by defects in membrane proteins located in distinct layers of the red cell membrane: red cell cytoskeleton disorders, including hereditary spherocytosis (see {182900}), hereditary elliptocytosis (see {611804}), and hereditary pyropoikilocytosis (OMIM ); and cation permeability disorders of the red cell membrane, or hereditary stomatocytoses, including DHS, OHST, CHC, and PSHK. The authors noted that because there is no specific screening test for the hereditary stomatocytoses, a preliminary diagnosis is based on the presence of a compensated hemolytic anemia, macrocytosis, and a temperature- or time-dependent pseudohyperkalemia in some patients. King et al. (2015) reported the International Council for Standardization in Haematology (ICSH) guidelines for laboratory diagnosis of nonimmune hereditary red cell membrane disorders.

DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA; DHS1 Is also known as pseudohyperkalemia, familial, 1, due to red cell leak|pshk1|dhs|dehydrated hereditary stomatocytosis|xerocytosis, hereditary|desiccytosis, hereditary|pseudohyperkalemia edinburgh

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Fever
  • Fatigue
  • Edema


SOURCES: OMIM MENDELIAN

More info about DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA; DHS1

Familial osteochondritis dissecans is a rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence.

FAMILIAL OSTEOCHONDRITIS DISSECANS Is also known as osteochondritis dissecans and short stature|od|osteochondritis dissecans, short stature, and early-onset osteoarthritis

Related symptoms:

  • Short stature
  • Abnormal facial shape
  • Pain
  • Depressed nasal bridge
  • Brachydactyly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about FAMILIAL OSTEOCHONDRITIS DISSECANS

Top 5 symptoms//phenotypes associated to Edema and Spinal muscular atrophy

Symptoms // Phenotype % cases
Skeletal muscle atrophy Common - Between 50% and 80% cases
Flexion contracture Uncommon - Between 30% and 50% cases
Congenital contracture Uncommon - Between 30% and 50% cases
Gait disturbance Uncommon - Between 30% and 50% cases
Arthrogryposis multiplex congenita Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Edema and Spinal muscular atrophy. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases

Short stature Arthritis Joint swelling Growth abnormality Paucity of anterior horn motor neurons Joint stiffness Hyperlordosis Arthralgia Skeletal dysplasia Multiple joint contractures Pain Ataxia Abnormality of the foot Fetal akinesia sequence Respiratory insufficiency Akinesia Pterygium Short neck Increased mean corpuscular hemoglobin concentration Abnormality of the liver Portal vein thrombosis Compensated hemolytic anemia Pallor Schistocytosis Pyropoikilocytosis Recurrent thromboembolism Increased intracellular sodium Antiphospholipid antibody positivity Exercise-induced hemolysis Increased red cell hemolysis by shear stress Spasticity Cognitive impairment Elevated hepatic transaminase Dysarthria Dysphagia Congestive heart failure Chronic hemolytic anemia Hemoglobinuria Muscular dystrophy Hyperbilirubinemia Pericardial effusion Thromboembolism Limb-girdle muscular dystrophy Cholelithiasis Reticulocytosis Increased serum ferritin Esophageal varix Generalized edema Babinski sign Hyperkalemia Spherocytosis Elliptocytosis Gastritis Intermittent jaundice Stomatocytosis Hepatitis Dehydration Ascites Hemolytic anemia Cerebral atrophy Respiratory insufficiency due to muscle weakness Dementia Broad hallux Midface retrusion Delayed skeletal maturation Severe short stature Waddling gait Lumbar hyperlordosis Osteoarthritis Short thumb Accelerated skeletal maturation Back pain Mild short stature Limited elbow extension Brachydactyly Disproportionate short stature Proportionate short stature Exostoses Abnormality of tibia morphology Abnormality of the knee Low back pain Osteochondritis Dissecans Decreased hip abduction Limited elbow flexion Quadriceps muscle atrophy Frontal bossing Depressed nasal bridge Cerebral cortical atrophy Agitation Rigidity Aggressive behavior Chorea Neuronal loss in central nervous system Stereotypy Respiratory failure Apathy Personality changes Emotional lability Amyotrophic lateral sclerosis Global brain atrophy Abnormal facial shape Insomnia Frontotemporal dementia Abnormal lower motor neuron morphology Supranuclear gaze palsy Pulmonary edema Disinhibition Primitive reflex Perseveration Bulimia Semantic dementia Jaundice Prominent superficial veins Splenomegaly Abnormal eyelash morphology Intrauterine growth retardation Abnormal anterior horn cell morphology Severe hydrops fetalis Sensorineural hearing impairment Abnormality of cardiovascular system morphology Elevated serum creatine phosphokinase EMG abnormality Mask-like facies Palpebral edema Abnormality of the retinal vasculature Growth delay Muscle weakness Cataract Peripheral neuropathy Areflexia Hyporeflexia Pes cavus Gait ataxia Distal muscle weakness Limb muscle weakness Low-set ears Multiple pterygia Paresthesia Abnormality of the thorax Micrognathia Polyhydramnios Low-set, posteriorly rotated ears Pulmonary hypoplasia Recurrent fractures Limitation of joint mobility Webbed neck Abnormality of the ribs Abnormal form of the vertebral bodies Neurogenic bladder Abnormality of the hip bone Slender long bone Abnormality of the elbow Abnormal cortical bone morphology Amniotic constriction ring Hypoplasia of the musculature Abnormality of the amniotic fluid Abnormality of the spinal cord Widening of cervical spinal canal Lower limb muscle weakness Peripheral axonal neuropathy Fatigue Lack of skin elasticity Increased bone mineral density Cranial nerve paralysis Hemangioma Dermal atrophy Hyperostosis Scleroderma Abnormality of the vasculature Atypical scarring of skin Lower limb asymmetry Hypertelorism Lymphedema Chronic pain Upper limb asymmetry Peripheral arteriovenous fistula Subcutaneous calcification Osteopoikilosis Ectopic ossification in muscle tissue Anemia Hepatomegaly Fever Bone pain Nevus Falls Focal segmental glomerulosclerosis Distal amyotrophy Distal sensory impairment Sensory neuropathy Neutropenia Sensory impairment Peripheral demyelination Frequent falls Glomerulosclerosis Steppage gait Axonal degeneration Dilatation Decreased number of peripheral myelinated nerve fibers Onion bulb formation Sensory ataxia Segmental peripheral demyelination/remyelination Peripheral axonal degeneration Segmental peripheral demyelination Failure to thrive Hypertension Abnormality of the skeletal system Abnormality of skeletal physiology


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