Edema, and Generalized muscle weakness

Diseases related with Edema and Generalized muscle weakness

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


Top matches:

Medium match MULTIPLE MYELOMA


Multiple myeloma (MM) is a malignant tumor of plasma cell characterized by overproduction of abnormal plasma cells in the bone marrow and skeletal destruction. The clinical features are bone pain, renal impairment, immunodeficiency, anemia and presence of abnormal immunoglobulins (Ig).

MULTIPLE MYELOMA Is also known as plasma cell myeloma|myelomatosis|kahler's disease|medullary plasmacytoma

Related symptoms:

  • Neoplasm
  • Anemia
  • Fatigue
  • Splenomegaly
  • Weight loss


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTIPLE MYELOMA

Medium match ACYL-COA DEHYDROGENASE 9 DEFICIENCY


Acyl-CoA dehydrogenase 9 (ACAD9) deficiency is a rare disorder leading to a deficiency of complex I of the respiratory chain and is characterized by neurological dysfunction, hepatic failure and cardiomyopathy.

ACYL-COA DEHYDROGENASE 9 DEFICIENCY Is also known as acyl-coa dehydrogenase 9 deficiency|acad9 deficiency

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about ACYL-COA DEHYDROGENASE 9 DEFICIENCY

Medium match MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY


Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy..

MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY Is also known as tfpd|tfp deficiency

Related symptoms:

  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia
  • Motor delay
  • Peripheral neuropathy


SOURCES: ORPHANET MENDELIAN

More info about MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY

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Other less relevant matches:

Medium match RIGID SPINE SYNDROME


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

Medium match BARTTER SYNDROME, TYPE 3; BARTS3


Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997).Patients with antenatal (or neonatal) forms of Bartter syndrome (e.g., BARTS1, {601678}) typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012). Genetic Heterogeneity of Bartter SyndromeAntenatal Bartter syndrome type 1 (OMIM ) is caused by loss-of-function mutations in the butmetanide-sensitive Na-K-2Cl cotransporter NKCC2 (SLC12A1 ). Antenatal Bartter syndrome type 2 (OMIM ) is caused by loss-of-function mutations in the ATP-sensitive potassium channel ROMK (KCNJ1 ). One form of neonatal Bartter syndrome with sensorineural deafness, Bartter syndrome type 4A (OMIM ), is caused by mutation in the BSND gene (OMIM ). Another form of neonatal Bartter syndrome with sensorineural deafness, Bartter syndrome type 4B (OMIM ), is caused by simultaneous mutation in both the CLCNKA (602024) and CLCNKB (602023) genes.Also see autosomal dominant hypocalcemia-1 with Bartter syndrome (OMIM ), which is sometimes referred to as Bartter syndrome type 5 (Fremont and Chan, 2012), caused by mutation in the CASR gene (OMIM ).See Gitelman syndrome (GTLMN ), which is often referred to as a mild variant of Bartter syndrome, caused by mutation in the thiazide-sensitive sodium-chloride cotransporter SLC12A3 (OMIM ).

BARTTER SYNDROME, TYPE 3; BARTS3 Is also known as bartter syndrome, classic

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Growth delay
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about BARTTER SYNDROME, TYPE 3; BARTS3

Medium match MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY; MTPD


The mitochondrial trifunctional protein, composed of 4 alpha and 4 beta subunits, catalyzes 3 steps in mitochondrial beta-oxidation of fatty acids: long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD), long-chain enoyl-CoA hydratase, and long-chain thiolase activities. Trifunctional protein deficiency is characterized by decreased activity of all 3 enzymes. Clinically, classic trifunctional protein deficiency can be classified into 3 main clinical phenotypes: neonatal onset of a severe, lethal condition resulting in sudden unexplained infant death (SIDS ), infantile onset of a hepatic Reye-like syndrome, and late-adolescent onset of primarily a skeletal myopathy (Spiekerkoetter et al., 2003).Some patients with MTP deficiency show a protracted progressive course associated with myopathy, recurrent rhabdomyolysis, and sensorimotor axonal neuropathy. These patients tend to survive into adolescence and adulthood (den Boer et al., 2003).See also isolated LCHAD deficiency (OMIM ), which is caused by mutation in the HADHA gene.

MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY; MTPD Is also known as trifunctional protein deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY; MTPD

Medium match CONGENITAL MYOPATHY WITH EXCESS OF THIN FILAMENTS


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

Medium match BARTTER SYNDROME, TYPE 2, ANTENATAL; BARTS2


Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997).Patients with antenatal forms of Bartter syndrome typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome (see BARTS3, {607364}) present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012).For a discussion of genetic heterogeneity of Bartter syndrome, see {607364}.

BARTTER SYNDROME, TYPE 2, ANTENATAL; BARTS2 Is also known as hypokalemic alkalosis with hypercalciuria 2, antenatal|hyperprostaglandin e syndrome 2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about BARTTER SYNDROME, TYPE 2, ANTENATAL; BARTS2

Medium match BARTTER SYNDROME, TYPE 1, ANTENATAL; BARTS1


Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997).Patients with antenatal forms of Bartter syndrome typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome (see BARTS3, {607364}) present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012).For a discussion of genetic heterogeneity of Bartter syndrome, see {607364}.

BARTTER SYNDROME, TYPE 1, ANTENATAL; BARTS1 Is also known as hyperprostaglandin e syndrome 1|hypokalemic alkalosis with hypercalciuria 1, antenatal

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about BARTTER SYNDROME, TYPE 1, ANTENATAL; BARTS1

Medium match GITELMAN SYNDROME; GTLMNS


Gitelman syndrome is an autosomal recessive renal tubular salt-wasting disorder characterized by hypokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria. It is the most common renal tubular disorder among Caucasians (prevalence of 1 in 40,000). Most patients have onset of symptoms as adults, but some can present in childhood. Clinical features include transient periods of muscle weakness and tetany, abdominal pains, and chondrocalcinosis (summary by Glaudemans et al., 2012). Gitelman syndrome is sometimes referred to as a mild variant of classic Bartter syndrome (OMIM ).For a discussion of genetic heterogeneity of Bartter syndrome, see {607364}.

GITELMAN SYNDROME; GTLMNS Is also known as hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria|potassium and magnesium depletion

Related symptoms:

  • Seizures
  • Short stature
  • Generalized hypotonia
  • Ataxia
  • Growth delay


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about GITELMAN SYNDROME; GTLMNS

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

Symptoms // Phenotype % cases
Failure to thrive Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Muscle cramps Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Respiratory insufficiency Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Seizures Small for gestational age Vomiting Short stature Cardiomyopathy Congestive heart failure Muscular hypotonia Metabolic alkalosis Paresthesia Hypercalciuria Hypokalemia Fever Polyuria Pain Dilated cardiomyopathy Hypomagnesemia Alkalosis Chondrocalcinosis Renal salt wasting Increased circulating renin level Polyhydramnios Dehydration Renal potassium wasting Global developmental delay Hypokalemic metabolic alkalosis Hypokalemic alkalosis Myopathy Hypertension Lactic acidosis Osteopenia Renal insufficiency Tetany Myalgia Elevated hepatic transaminase Hypoglycemia Premature birth Nephrocalcinosis Hypotension Hypochloremia Hyperammonemia Acidosis Arrhythmia Diarrhea Hypercalcemia Hyperchloriduria Hyperactive renin-angiotensin system Increased urinary potassium Motor delay Hypocalciuria Apnea Hyperaldosteronism Respiratory failure Constipation Intellectual disability Rhabdomyolysis Hyporeflexia Infantile muscular hypotonia

Rare Symptoms - Less than 30% cases


Hypoventilation Feeding difficulties in infancy Spinal rigidity Abnormality of the liver Respiratory arrest Lethargy Pigmentary retinopathy Hydrops fetalis Hearing impairment Myoglobinuria Waddling gait Hyperlordosis Facial palsy Proximal muscle weakness Neonatal hypotonia Rigidity Growth delay Arthrogryposis multiplex congenita Limb muscle weakness Paralysis Hypoketotic hypoglycemia Sensorineural hearing impairment Cough High palate Flexion contracture Scoliosis Prenatal maternal abnormality Recurrent myoglobinuria Recurrent respiratory infections Abnormality of the amniotic fluid Hyposthenuria Areflexia Ventricular hypertrophy Fatigue Respiratory distress Weight loss Respiratory tract infection Nephropathy Feeding difficulties Cardiac arrest Peripheral neuropathy Hypertrophic cardiomyopathy Hepatic failure Hepatic steatosis Metabolic acidosis Low-to-normal blood pressure Renal juxtaglomerular cell hypertrophy/hyperplasia Hyperkalemia Increased serum prostaglandin E2 Tachycardia Ventricular arrhythmia Decreased liver function Polydipsia Prominent forehead Triangular face Fetal polyuria Hyperprostaglandinuria EMG: myopathic abnormalities Exercise intolerance Frequent falls Decreased fetal movement Respiratory failure requiring assisted ventilation Pulmonary hypoplasia Abnormality of the skeletal system Genu valgum Acute hepatic steatosis Retrognathia Pes cavus Pectus excavatum Hypertonia Falls Distal muscle weakness Dysphagia Hyperreflexia Retinopathy Peripheral axonal neuropathy Distal sensory impairment Coma Sensory impairment Tachypnea Decreased nerve conduction velocity Exercise-induced rhabdomyolysis Tricuspid regurgitation Hypoparathyroidism Skeletal myopathy Narrow face Progressive peripheral neuropathy Joint contracture of the hand Neoplasm Foot dorsiflexor weakness Nausea Hyperparathyroidism Parathyroid adenoma Parathyroid hyperplasia Nephrogenic diabetes insipidus Ataxia Abdominal pain Arthralgia Anxiety Erythema Nausea and vomiting Delayed puberty Confusion Vertigo Postural instability Stage 5 chronic kidney disease Palpitations Inflammatory abnormality of the skin Ventricular tachycardia Hyperkinesis Blurred vision Prolonged QT interval Episodic fever Hyperventilation Enuresis Periodic paralysis Pollakisuria Hypovolemia Nocturia Renal magnesium wasting Diabetes insipidus Protruding ear Knee flexion contracture Breech presentation Respiratory insufficiency due to muscle weakness Congenital contracture Akinesia Myotonia Mask-like facies Myopathic facies Mildly elevated creatine phosphokinase Bulbar palsy Thin ribs EMG: neuropathic changes Facial diplegia Fetal akinesia sequence Nemaline bodies Type 1 muscle fiber predominance Slender build Gastroesophageal reflux Neck flexor weakness Diaphragmatic paralysis Fetal distress Percussion myotonia Late-onset distal muscle weakness Macrocephaly Frontal bossing Macrotia Hyperthyroidism Abnormally large globe Impaired platelet aggregation Pseudohypoaldosteronism Strabismus Abnormal facial shape Difficulty walking Type 1 and type 2 muscle fiber minicore regions Dilatation Severe lactic acidosis Cognitive impairment Thrombocytopenia Depressivity Encephalopathy Patent ductus arteriosus Stroke Sudden cardiac death Increased serum lactate Left ventricular hypertrophy Fatigable weakness Acute hepatic failure Generalized edema Hyperproteinemia Decreased plasma carnitine Cerebral edema Prolonged prothrombin time Proximal tubulopathy Microvesicular hepatic steatosis Decreased activity of mitochondrial respiratory chain Dicarboxylic aciduria Macrovesicular hepatic steatosis Decreased activity of mitochondrial complex I Nonketotic hypoglycemia Elevated creatine kinase after exercise Plasmacytoma Paraproteinemia Elevated plasma acylcarnitine levels Abnormality of blood and blood-forming tissues Splenomegaly Lymphadenopathy Polyneuropathy Decreased antibody level in blood Nephrotic syndrome Tall stature Bone pain Pleural effusion Increased antibody level in blood Colon cancer Pathologic fracture Amyloidosis Abnormality of vitamin B12 metabolism Acute kidney injury Spinal cord compression Neoplasm of the pancreas Elevated serum creatinine Vertebral compression fractures Multiple myeloma Prostate cancer Increased IgA level Abnormality of the bladder Increased IgG level Functional abnormality of the gastrointestinal tract Monoclonal immunoglobulin M proteinemia Increased lactate dehydrogenase activity Cerebellar hemorrhage Ventriculomegaly Anorexia Crackles Minicore myopathy Hamstring contractures Limited neck flexion Abnormality of skeletal morphology Anemia Abnormality on pulmonary function testing Cardiac conduction abnormality Arthritis Chest pain Growth hormone deficiency Hypocalcemia Nocturnal hypoventilation Glomerulonephritis Rickets Polycythemia Hyperphosphatemia Abnormality of the retinal vasculature Abnormal choroid morphology Azotemia Abnormal sclera morphology Secondary hyperaldosteronism Impaired reabsorption of chloride Abnormality of prostaglandin metabolism Orthopnea Muscle fiber necrosis Elevated serum creatine phosphokinase Congenital muscular dystrophy Cholestasis Hepatomegaly Skeletal muscle atrophy Pneumonia Muscular dystrophy Abnormality of the cerebral white matter Progressive muscle weakness Elbow flexion contracture Poor head control Nasal speech Gowers sign Increased variability in muscle fiber diameter Peroneal muscle atrophy High pitched voice Generalized amyotrophy Hip contracture Neck muscle weakness Malignant hyperthermia Thoracolumbar scoliosis Right ventricular hypertrophy Cor pulmonale Restrictive deficit on pulmonary function testing Abnormality of the rib cage Axial muscle weakness Reduced vital capacity Salt craving



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