Edema, and Proximal muscle weakness

Diseases related with Edema and Proximal muscle weakness

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

Top matches:

LAMB2-related infantile-onset nephrotic syndrome is a rare primary glomerular disease due to homozygous mutations in LAMB2 gene, characterized by prenatal or early-onset progressive steroid-resistant nephrotic syndrome leading to renal failure, and variable ocular defects including myopia, fundus abnormalities, strabismus or nystagmus, without severe visual impairment or blindness. Patients present in early infancy with massive proteinuria, edema, hypertension, and hyperlipidemia. Psychomotor development is normal.

Related symptoms:

  • Scoliosis
  • Nystagmus
  • Strabismus
  • Muscle weakness
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about LAMB2-RELATED INFANTILE-ONSET NEPHROTIC SYNDROME

Autosomal recessive limb girdle muscular dystrophy type 2E (LGMD2E) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a childhood to adolescent onset of progressive pelvic- and shoulder-girdle muscle weakness, particularly affecting the pelvic girdle (adductors and flexors of hip). Usually the knees are the earliest and most affected muscles. In advanced stages, involvement of the shoulder girdle (resulting in scapular winging) and the distal muscle groups are observed. Calf hypertrophy, cardiomyopathy, respiratory impairment, tendon contractures, scoliosis, and exercise-induced myoglobinuria may be observed.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2E Is also known as beta-sarcoglycanopathy|limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency|lgmd2e|muscular dystrophy, limb-girdle, type 2e

Related symptoms:

  • Scoliosis
  • Delayed speech and language development
  • Gait disturbance
  • Dysphagia
  • Respiratory insufficiency


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2E

GLYCOGEN STORAGE DISEASE IV; GSD4 Is also known as andersen disease|brancher deficiency|gbe1 deficiency|amylopectinosis|gsd iv|glycogen branching enzyme deficiency|cirrhosis, familial, with deposition of abnormal glycogen|glycogenosis iv

Related symptoms:

  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE IV; GSD4

Other less relevant matches:

Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy (see this term) characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency.

RIGID SPINE SYNDROME Is also known as minicore myopathy, severe classic form|mdrs1|desmin-related myopathy with mallory bodies|multiminicore disease, severe classic form|myopathy, sepn1-related|rigid spine syndrome|muscular dystrophy, congenital, eichsfeld type|rigid spine congenital muscular

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about RIGID SPINE SYNDROME

Nemaline myopathy is a form of congenital myopathy characterized by abnormal thread- or rod-like structures in muscle fibers on histologic examination ('nema' is Greek for 'thread'). The clinical phenotype is highly variable, with differing age at onset and severity. Muscle weakness typically involves proximal muscles, with involvement of the facial, bulbar, and respiratory muscles (Ilkovski et al., 2001). Attempts at classification of nemaline myopathies into clinical subtypes have been complicated by the overlap of clinical features and a continuous phenotypic spectrum of disease (North et al., 1997; Wallgren-Pettersson et al., 1999; Ryan et al., 2001; Sanoudou and Beggs, 2001). In general, 2 clinical groups can be readily distinguished: 'typical' and 'severe.' Typical nemaline myopathy is the most common form, presenting as infantile hypotonia and muscle weakness. It is slowly progressive or nonprogressive, and most adults achieve ambulation. The severe form of the disorder is characterized by absence of spontaneous movement or respiration at birth, arthrogryposis, and death in the first months of life. Much less commonly, late-childhood or even adult-onset can occur. However, adult-onset nemaline myopathy is usually not familial and may represent a different disease (Wallgren-Pettersson et al., 1999; Sanoudou and Beggs, 2001).Myopathy caused by mutations in the ACTA1 gene can show a range of clinical and pathologic phenotypes. Some patients have classic rods, whereas others may also show intranuclear rods, clumped filaments, cores, or fiber-type disproportion (see {255310}), all of which are nonspecific pathologic findings and not pathognomonic of a specific congenital myopathy. The spectrum of clinical phenotypes caused by mutations in ACTA1 may result from different mutations, modifying factors affecting the severity of the disorder, variability in clinical care, or a combination of these factors (Nowak et al., 1999; Kaindl et al., 2004). Genetic Heterogeneity of Nemaline MyopathySee also NEM1 (OMIM ), caused by mutation in the tropomyosin-3 gene (TPM3 ) on chromosome 1q22; NEM2 (OMIM ), caused by mutation in the nebulin gene (NEB ) on chromosome 2q23; NEM4 (OMIM ), caused by mutation in the beta-tropomyosin gene (TPM2 ) on chromosome 9p13; NEM5 (OMIM ), also known as Amish nemaline myopathy, caused by mutation in the troponin T1 gene (TNNT1 ) on chromosome 19q13; NEM6 (OMIM ), caused by mutation in the KBTBD13 gene (OMIM ) on chromosome 15q22; NEM7 (OMIM ), caused by mutation in the cofilin-2 gene (CFL2 ) on chromosome 14q13; NEM8 (OMIM ), caused by mutation in the KLHL40 gene (OMIM ), on chromosome 3p22; NEM9 (OMIM ), caused by mutation in the KLHL41 gene (OMIM ) on chromosome 2q31; NEM10 (OMIM ), caused by mutation in the LMOD3 gene (OMIM ) on chromosome 3p14; and NEM11 (OMIM ), caused by mutation in the MYPN gene (OMIM ) on chromosome 10q21. Several of the genes encode components of skeletal muscle sarcomeric thin filaments (Sanoudou and Beggs, 2001).Mutations in the NEB gene are the most common cause of nemaline myopathy (Lehtokari et al., 2006).

CONGENITAL MYOPATHY WITH EXCESS OF THIN FILAMENTS Is also known as actin myopathy

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive
  • Muscle weakness
  • Flexion contracture


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CONGENITAL MYOPATHY WITH EXCESS OF THIN FILAMENTS

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

Malignant hyperthermia susceptibility (MHS), a skeletal muscle disorder most often inherited as an autosomal dominant trait, is one of the main causes of death due to anesthesia. In susceptible people, a malignant hyperthermia episode is triggered by exposure to commonly used volatile anesthetic agents such as halothane or depolarizing muscle relaxants such as succinyl choline. A fulminant MH crisis is characterized by any combination of hyperthermia, skeletal muscle rigidity, tachycardia or arrhythmia, respiratory and metabolic acidosis, and rhabdomyolysis. Except for this susceptibility to triggering agents, MHS patients are not clinically distinguishable from the general population (summary by Monnier et al., 1997). Genetic Heterogeneity of Susceptibility to Malignant HyperthermiaOther MHS loci include MHS2 (OMIM ) on chromosome 17q; MHS3 (OMIM ) on chromosome 7q; MHS4 (OMIM ) on chromosome 3q; MHS5 (OMIM ), caused by mutation in the CACNA1S gene (OMIM ) on chromosome 1q32; and MHS6 (OMIM ) on chromosome 5p.

MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1 Is also known as mhs|hyperthermia of anesthesia|mh|hyperpyrexia, malignant

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1

Nemaline myopathy-2 is an autosomal recessive skeletal muscle disorder with a wide range of severity. The most common clinical presentation is early-onset (in infancy or childhood) muscle weakness predominantly affecting proximal limb muscles. Muscle biopsy shows accumulation of Z-disc and thin filament proteins into aggregates named 'nemaline bodies' or 'nemaline rods,' usually accompanied by disorganization of the muscle Z discs. The clinical and histologic spectrum of entities caused by variants in the NEB gene is a continuum, ranging in severity from the severe form with perinatal onset and fetal death to milder forms with later onset. The distribution of weakness can vary from generalized muscle weakness, more pronounced in proximal limb muscles, to distal-only involvement, although neck flexor weakness appears to be rather consistent. Histologic patterns range from a severe usually nondystrophic disturbance of the myofibrillar pattern to an almost normal pattern, with or without nemaline bodies, sometimes combined with cores (summary by Lehtokari et al., 2014).For a discussion of genetic heterogeneity of nemaline myopathy, see NEM3 (OMIM ).Mutations in the NEB gene are the most common cause of nemaline myopathy (Lehtokari et al., 2006).

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism
  • Muscle weakness
  • Cleft palate


SOURCES: OMIM MESH MENDELIAN

More info about NEMALINE MYOPATHY 2; NEM2

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

Low match BARTH SYNDROME

Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria.

BARTH SYNDROME Is also known as bths|3-methylglutaconic aciduria type 2|mgca2|x-linked cardioskeletal myopathy and neutropenia|cardioskeletal myopathy with neutropenia and abnormal mitochondria|mga2|mga, type ii|cardioskeletal myopathy-neutropenia syndrome|3-methylglutaconic aciduria, t

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Failure to thrive


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about BARTH SYNDROME

Top 5 symptoms//phenotypes associated to Edema and Proximal muscle weakness

Symptoms // Phenotype % cases
Muscle weakness Common - Between 50% and 80% cases
Myopathy Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Myopathic facies Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Edema and Proximal muscle weakness. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Muscular dystrophy

Uncommon Symptoms - Between 30% and 50% cases

Limb muscle weakness

Common Symptoms - More than 50% cases

Flexion contracture

Uncommon Symptoms - Between 30% and 50% cases

Arthrogryposis multiplex congenita Hyperlordosis Facial palsy Waddling gait Motor delay Decreased fetal movement High palate Cardiomyopathy Respiratory insufficiency Congestive heart failure Dilated cardiomyopathy Failure to thrive Talipes equinovarus Neonatal hypotonia Hyporeflexia Akinesia Generalized muscle weakness Fetal akinesia sequence Hydrops fetalis Polyhydramnios Respiratory distress Feeding difficulties Skeletal muscle atrophy Feeding difficulties in infancy Short stature Muscular hypotonia Increased variability in muscle fiber diameter Spinal rigidity Axial muscle weakness Pectus excavatum Respiratory failure Apnea Areflexia Rigidity Hypertrophic cardiomyopathy Downslanted palpebral fissures Hypertelorism Arrhythmia Dysphagia Cryptorchidism Low-set ears Type 1 muscle fiber predominance Ptosis Nemaline bodies

Rare Symptoms - Less than 30% cases

Webbed neck Minicore myopathy Abnormality of the rib cage Ventricular arrhythmia Muscle fiber necrosis Respiratory arrest Type 1 and type 2 muscle fiber minicore regions Facial diplegia Hypoventilation Malignant hyperthermia Stroke Cleft palate Micropenis Congenital muscular dystrophy Talipes Pterygium Cough Cystic hygroma Growth delay Ophthalmoplegia Aciduria 3-Methylglutaconic aciduria Lactic acidosis Kyphosis Kyphoscoliosis Frequent falls Bulbar palsy Mildly elevated creatine phosphokinase Mask-like facies Breech presentation EMG: myopathic abnormalities Respiratory insufficiency due to muscle weakness Slender build Foot dorsiflexor weakness Narrow face Pulmonary hypoplasia Hypertonia Falls Respiratory tract infection Neck flexor weakness Late-onset distal muscle weakness Abnormal facial shape Pes cavus Recurrent respiratory infections EMG: neuropathic changes Dilatation Acidosis Myotonia Congenital contracture Pneumonia Myalgia Myoglobinuria Gait disturbance Exercise intolerance Elevated serum creatine phosphokinase Difficulty walking Hepatomegaly Peripheral neuropathy Renal insufficiency Hypertension Sudden cardiac death Distal muscle weakness Limb-girdle muscular dystrophy Global developmental delay Fever Gowers sign Strabismus Calf muscle pseudohypertrophy Myopia Cyanosis Bradycardia External ophthalmoplegia Scrotal hypoplasia Tented upper lip vermilion Bilateral cryptorchidism Centrally nucleated skeletal muscle fibers Increased connective tissue Exercise-induced myalgia Shoulder girdle muscle weakness Bell-shaped thorax Distal arthrogryposis Severe postnatal growth retardation Difficulty running Dolichocephaly Single transverse palmar crease Stage 5 chronic kidney disease Sinus tachycardia Mixed respiratory and metabolic acidosis Nephrotic syndrome Dysarthria Long philtrum Hypospadias Retinal detachment Abnormality of the eye Abnormality of skin pigmentation Inability to walk Large fontanelles Adducted thumb Rocker bottom foot Prominent nasal bridge Multiple joint contractures Pericardial effusion Abnormality of the kidney Hand clenching Multiple pterygia Severe hydrops fetalis Transient myeloproliferative syndrome Mitochondrial depletion Proteinuria Short neck Clinodactyly Joint laxity Increased nuchal translucency Muscle fiber hypertrophy Generalized limb muscle atrophy Abnormality of the mitochondrion Easy fatigability Abnormality of mitochondrial metabolism Poor appetite Mitochondrial myopathy Organic aciduria Left ventricular noncompaction Decreased plasma carnitine Recurrent aphthous stomatitis Left ventricular failure Skeletal myopathy Endocardial fibroelastosis Hypocholesterolemia Recurrent bacterial infections Abnormality of neutrophils Granulocytopenia Abnormal endocardium morphology Prolonged QTc interval Pyoderma Monocytosis Abnormal mitochondrial morphology Abnormal mitochondrial shape Agranulocytosis Cyclic neutropenia Increased mitochondrial number Recurrent infections in infancy and early childhood Hyperammonemia Spontaneous abortion Functional respiratory abnormality Mandibular prognathia Type 1 muscle fiber atrophy Internally nucleated skeletal muscle fibers Congenital ptosis Rectus femoris muscle atrophy Tibialis atrophy Frog-leg posture Sternocleidomastoid amyotrophy Abnormal muscle morphology Fatigue Diarrhea Recurrent infections Abnormal heart morphology Macrotia Eczema Osteopenia Hypoglycemia Deeply set eye Protruding ear Broad forehead Lethargy Delayed puberty Neutropenia Sepsis Full cheeks Round face Specific learning disability Long upper lip Abnormality of the sternum Diaphragmatic eventration Abnormality of the skeletal system Orthopnea Crackles Hamstring contractures Limited neck flexion Abnormality of skeletal morphology Ascites Abnormality on pulmonary function testing Cardiac conduction abnormality Hepatic failure Hyperreflexia Cirrhosis Hepatic fibrosis Abnormality of the liver Hepatosplenomegaly Dyspnea Retrognathia Reduced muscle fiber beta sarcoglycan Paralysis Genu valgum Pelvic girdle muscle atrophy Tip-toe gait Joint contracture of the hand Shoulder girdle muscle atrophy Nocturnal hypoventilation Peroneal muscle atrophy Knee flexion contracture Exertional dyspnea Limb joint contracture Tubulointerstitial fibrosis Generalized edema Abnormality of the cerebral white matter Esophageal varix Ventricular hypertrophy Progressive muscle weakness Elbow flexion contracture Poor head control Nasal speech High pitched voice Reduced vital capacity Generalized amyotrophy Difficulty climbing stairs Hip contracture Neck muscle weakness Portal hypertension Reduced tendon reflexes Thoracolumbar scoliosis Right ventricular hypertrophy Cor pulmonale Restrictive deficit on pulmonary function testing Decreased liver function Pelvic girdle muscle weakness Achilles tendon contracture Severe lactic acidosis Shock Focal segmental glomerulosclerosis Tachycardia Joint hypermobility Metabolic acidosis Muscle cramps Abnormal bleeding Glomerulosclerosis Hypotension Lumbar hyperlordosis Lymphedema Tachypnea Neurodevelopmental delay Chronic kidney disease Deep philtrum Ventricular fibrillation Abnormality of the coagulation cascade Hyperkalemia Rhabdomyolysis Acute kidney injury Scaphocephaly Thoracic kyphosis Low hanging columella Hyperphosphatemia Pectus carinatum Congenital nystagmus Infantile muscular hypotonia Fetal distress Limb-girdle muscle weakness Nystagmus Proximal amyotrophy Calf muscle hypertrophy Thin ribs Scapular winging Broad-based gait Palpitations Macroglossia Diaphragmatic paralysis Percussion myotonia Miosis Intellectual disability Seizures Osteoporosis Delayed speech and language development Epicanthus Microcoria Limited extraocular movements Malar flattening Congenital nephrotic syndrome Midface retrusion Hyperhidrosis Intermittent lactic acidemia


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