Edema, and Distal amyotrophy

Diseases related with Edema and Distal amyotrophy

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

Top matches:

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

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

Multiminicore disease (MMD) is an inherited neuromuscular disorder defined pathologically by the presence of multiple areas of reduced mitochondrial oxidative activity running along a limited extent of the longitudinal axis of the muscle fiber, so-called 'minicores.' These regions show sarcomere disorganization and mitochondria depletion. Typically, no dystrophic signs, such as muscle fiber necrosis or regeneration or significant endomysial fibrosis, are present. MMD is a pathologic diagnosis and shows clinical and genetic heterogeneity. Affected individuals have clinical features of a congenital myopathy, including neonatal hypotonia, delayed motor development, and generalized muscle weakness and amyotrophy, which may progress slowly or remain stable (Ferreiro and Fardeau, 2002).Patients with recessive mutations in the RYR1 gene typically show severe congenital muscular dystrophy with ophthalmoplegia, although there is phenotypic variability. Some patients may present in utero with fetal akinesia, arthrogryposis, and lung hypoplasia resulting in fetal or perinatal death (McKie et al., 2014). Skeletal muscle biopsy of patients with recessive RYR1 mutations show variable features, including central cores (Jungbluth et al., 2007), congenital fiber-type disproportion (CFTD) (Monnier et al., 2009), and centronuclear myopathy (Wilmshurst et al., 2010).

CONGENITAL MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA Is also known as minicore myopathy|multicore myopathy|multiminicore disease with external ophthalmoplegia|multiminicore myopathy multicore myopathy with external ophthalmoplegia

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA

Other less relevant matches:

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

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

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 Distal amyotrophy

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

Other less frequent symptoms

Patients with Edema and Distal amyotrophy. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases

Ataxia Akinesia Low-set ears Short neck Respiratory failure Muscular dystrophy Pterygium Fetal akinesia sequence Mask-like facies Growth delay Congenital contracture Muscle weakness Pain Skeletal dysplasia Arthralgia Arthritis Joint stiffness Growth abnormality Joint swelling Abnormal facial shape Hyperlordosis Areflexia Abnormality of the foot Generalized edema Dehydration Hepatitis Hyperbilirubinemia Cholelithiasis Limb-girdle muscular dystrophy Hyperkalemia Pericardial effusion Thromboembolism Reticulocytosis Increased serum ferritin Esophageal varix Spherocytosis Hemolytic anemia Elliptocytosis Gastritis Intermittent jaundice Stomatocytosis Hemoglobinuria Antiphospholipid antibody positivity Chronic hemolytic anemia Portal vein thrombosis Compensated hemolytic anemia Schistocytosis Pyropoikilocytosis Recurrent thromboembolism Ascites Pallor Abnormality of the liver Prominent superficial veins Increased bone mineral density Cranial nerve paralysis Hemangioma Peripheral neuropathy Dermal atrophy Hyperostosis Scleroderma Cataract Abnormality of the vasculature Atypical scarring of skin Lower limb asymmetry Lack of skin elasticity Chronic pain Increased intracellular sodium Upper limb asymmetry Peripheral arteriovenous fistula Subcutaneous calcification Osteopoikilosis Ectopic ossification in muscle tissue Anemia Hepatomegaly Fever Fatigue Splenomegaly Jaundice Elevated hepatic transaminase Increased mean corpuscular hemoglobin concentration Exercise-induced hemolysis Lymphedema Back pain Short stature Depressed nasal bridge Brachydactyly Frontal bossing Midface retrusion Delayed skeletal maturation Severe short stature Waddling gait Lumbar hyperlordosis Osteoarthritis Short thumb Accelerated skeletal maturation Mild short stature Bulimia Broad hallux Limited elbow extension 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 Semantic dementia Perseveration Increased red cell hemolysis by shear stress Neuronal loss in central nervous system Spasticity Cognitive impairment Dysarthria Dysphagia Congestive heart failure Cerebral atrophy Babinski sign Dementia Cerebral cortical atrophy Rigidity Aggressive behavior Chorea Stereotypy Primitive reflex Respiratory insufficiency due to muscle weakness Apathy Personality changes Emotional lability Amyotrophic lateral sclerosis Agitation Global brain atrophy Insomnia Frontotemporal dementia Abnormal lower motor neuron morphology Supranuclear gaze palsy Pulmonary edema Disinhibition Bone pain Axonal degeneration Nevus Dolichocephaly Sensory neuropathy Micropenis Polyhydramnios Kyphoscoliosis Neonatal hypotonia Proximal muscle weakness Joint laxity Facial palsy Feeding difficulties in infancy Respiratory tract infection Prominent nasal bridge Distal sensory impairment Pneumonia Ophthalmoplegia Pulmonary hypoplasia Single transverse palmar crease Generalized muscle weakness Webbed neck Aciduria Cyanosis Decreased fetal movement Hydrops fetalis Bradycardia Narrow face External ophthalmoplegia Recurrent respiratory infections Clinodactyly Tented upper lip vermilion Cryptorchidism Onion bulb formation Sensory ataxia Segmental peripheral demyelination/remyelination Peripheral axonal degeneration Segmental peripheral demyelination Generalized hypotonia Scoliosis Focal segmental glomerulosclerosis Hypertelorism Steppage gait Muscular hypotonia Cleft palate Ptosis Kyphosis Glomerulosclerosis Frequent falls High palate Feeding difficulties Motor delay Peripheral demyelination Downslanted palpebral fissures Talipes equinovarus Sensory impairment Neutropenia Respiratory distress Myopathy Scrotal hypoplasia Falls Decreased number of peripheral myelinated nerve fibers Elevated serum creatine phosphokinase Sternocleidomastoid amyotrophy Abnormal muscle morphology Type 1 and type 2 muscle fiber minicore regions Multiple joint contractures Neurogenic bladder Multiple pterygia Intrauterine growth retardation Abnormal anterior horn cell morphology Severe hydrops fetalis Paucity of anterior horn motor neurons Sensorineural hearing impairment Abnormality of cardiovascular system morphology Limb muscle weakness Tibialis atrophy EMG abnormality Palpebral edema Abnormal eyelash morphology Abnormality of the retinal vasculature Failure to thrive Distal muscle weakness Hypertension Abnormality of the skeletal system Dilatation Gait ataxia Pes cavus Hyporeflexia Frog-leg posture Rectus femoris muscle atrophy Peripheral axonal neuropathy Lower limb muscle weakness Congenital muscular dystrophy Paresthesia Bilateral cryptorchidism Increased variability in muscle fiber diameter Myopathic facies Cystic hygroma Centrally nucleated skeletal muscle fibers Difficulty running Distal arthrogryposis Severe postnatal growth retardation Bell-shaped thorax Facial diplegia Nemaline bodies Muscle fiber hypertrophy Shoulder girdle muscle weakness Type 1 muscle fiber predominance Exercise-induced myalgia Increased connective tissue Axial muscle weakness 3-Methylglutaconic aciduria Increased nuchal translucency Muscle fiber necrosis Generalized limb muscle atrophy Functional respiratory abnormality Minicore myopathy Type 1 muscle fiber atrophy Internally nucleated skeletal muscle fibers Abnormality of skeletal physiology


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