Edema, and Elevated serum creatine phosphokinase

Diseases related with Edema and Elevated serum creatine phosphokinase

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


Top matches:

Low match FACIOSCAPULOHUMERAL DYSTROPHY


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 MYOTONIA FLUCTUANS


Myotonia fluctuans (MF) is a form of potassium-aggravated myotonia (PAM, see this term) which is cold insensitive, dramatically fluctuating and profoundly worsened by potassium ingestion.

MYOTONIA FLUCTUANS Is also known as fluctuating myotonia|exercise-induced delayed-onset myotonia

Related symptoms:

  • Muscle weakness
  • Spasticity
  • Gait disturbance
  • Dysphagia
  • Myopathy


SOURCES: ORPHANET MENDELIAN

More info about MYOTONIA FLUCTUANS

Low match FAMILIAL ISOLATED DILATED CARDIOMYOPATHY


Familial isolated dilated cardiomyopathy is a rare, genetically heterogeneous cardiac disease characterized by dilatation leading to systolic and diastolic dysfunction of the left and/or right ventricles, causing heart failure or arrhythmia.

FAMILIAL ISOLATED DILATED CARDIOMYOPATHY Is also known as cardiomyopathy, familial dilated|cardiomyopathy, familial dilated, 1|cmpd1|familial or idiopathic dilated cardiomyopathy|fdc

Related symptoms:

  • Sensorineural hearing impairment
  • Feeding difficulties
  • Fatigue
  • Ventriculomegaly
  • Cardiomyopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL ISOLATED DILATED CARDIOMYOPATHY

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Other less relevant matches:

Low match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2E


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

Low match VERY LONG CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY


Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is an inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis.

VERY LONG CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY Is also known as vlcadd|vlcad deficiency

Related symptoms:

  • Muscle weakness
  • Muscular hypotonia
  • Feeding difficulties
  • Hepatomegaly
  • Cardiomyopathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about VERY LONG CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY

Low 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

Low 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

Low 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

Low match MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1


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

Low match CONGENITAL MUSCULAR DYSTROPHY TYPE 1A


Congenital muscular dystrophy type 1A (MCD1A) belongs to a group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle weakness and muscle wasting.

CONGENITAL MUSCULAR DYSTROPHY TYPE 1A Is also known as muscular dystrophy, congenital merosin-deficient|cmd1a|merosin-negative congenital muscular dystrophy|mdc1a|congenital muscular dystrophy due to laminin alpha2 deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY TYPE 1A

Top 5 symptoms//phenotypes associated to Edema and Elevated serum creatine phosphokinase

Symptoms // Phenotype % cases
Cardiomyopathy Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Myopathy Common - Between 50% and 80% cases
Arrhythmia Common - Between 50% and 80% cases
Myalgia Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Edema and Elevated serum creatine phosphokinase. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Dilated cardiomyopathy Scoliosis Congestive heart failure Myopathic facies Myoglobinuria Dysphagia Muscular hypotonia Infantile muscular hypotonia Hypertrophic cardiomyopathy Hyperlordosis Respiratory insufficiency Generalized hypotonia Flexion contracture Tachypnea Areflexia Motor delay Muscular dystrophy Stroke Proximal muscle weakness Dilatation Feeding difficulties in infancy Failure to thrive Myotonia EMG abnormality Hypertonia Muscle cramps Rhabdomyolysis Gait disturbance Feeding difficulties Lactic acidosis Seizures

Rare Symptoms - Less than 30% cases


Hypoketotic hypoglycemia Decreased plasma carnitine Dicarboxylic aciduria Cognitive impairment Renal insufficiency Progressive muscle weakness Sudden cardiac death Hepatic steatosis Hepatic failure Acidosis Hypoglycemia Lethargy Elevated hepatic transaminase Skeletal muscle atrophy Metabolic acidosis Neonatal hypotonia Kyphoscoliosis Intellectual disability Breech presentation Hypoventilation Respiratory insufficiency due to muscle weakness Decreased fetal movement Limb muscle weakness Arthrogryposis multiplex congenita Paralysis Facial palsy Rigidity Generalized muscle weakness Respiratory failure Pes cavus Pectus excavatum Respiratory distress High palate Apnea Cerebral edema Severe lactic acidosis EMG: myopathic abnormalities Hyperammonemia Exercise intolerance Encephalopathy Sensorineural hearing impairment Waddling gait Limb-girdle muscular dystrophy Macroglossia Mask-like facies Hyperkalemia Palpitations Ventricular arrhythmia Cough Ventriculomegaly Dyspnea Hypotension Tachycardia Joint hypermobility Pectus carinatum Abnormal bleeding Webbed neck Abnormality of cardiovascular system morphology Pelvic girdle muscle atrophy Lumbar hyperlordosis Shock Deep philtrum Ventricular fibrillation Abnormality of the coagulation cascade Abnormality of the sternum Acute kidney injury Scaphocephaly Malignant hyperthermia Thoracic kyphosis Low hanging columella Lymphedema Midface retrusion Hyperhidrosis Short stature Fetal akinesia sequence Nemaline bodies Type 1 muscle fiber predominance Palpebral edema Slender build Neck flexor weakness Diaphragmatic paralysis Fetal distress Percussion myotonia Late-onset distal muscle weakness Hypertelorism Respiratory arrest Strabismus Abnormal facial shape Cryptorchidism Ptosis Low-set ears Epicanthus Fever Downslanted palpebral fissures Kyphosis Malar flattening Hyperphosphatemia Long upper lip Diaphragmatic eventration Astrocytosis Hypokinesia Weak cry Protruding tongue Abnormality of the periventricular white matter Abnormality of visual evoked potentials Recurrent lower respiratory tract infections Myositis Abnormal cortical gyration Reduced ejection fraction Atelectasis Increased connective tissue Focal impaired awareness seizure Muscle fiber atrophy Diffuse white matter abnormalities Pontocerebellar atrophy Impaired mastication Increased endomysial connective tissue Inferior vermis hypoplasia Hypointensity of cerebral white matter on MRI Abnormality of the temporomandibular joint Intercostal muscle weakness Abnormal brainstem MRI signal intensity Absent muscle fiber merosin Congenital muscular dystrophy Poor suck Congenital ptosis Polymicrogyria EMG: neuropathic changes Sinus tachycardia Mixed respiratory and metabolic acidosis Intellectual disability, severe Abnormality of metabolism/homeostasis Cerebellar hypoplasia Gastroesophageal reflux Intellectual disability, moderate Hip dislocation Abnormality of the cerebral white matter Ophthalmoplegia Inability to walk Lissencephaly Focal-onset seizure Bradykinesia Pulmonary arterial hypertension Open mouth Pachygyria Heterotopia Decreased body weight Sensorimotor neuropathy Aspiration Congenital hip dislocation Absence seizures Facial diplegia Akinesia Abnormal eyelash morphology Increased serum lactate Distal muscle weakness Thrombocytopenia Depressivity Patent ductus arteriosus Difficulty walking Osteoporosis Delayed speech and language development Diffuse palmoplantar hyperkeratosis Impaired myocardial contractility Abnormality of neutrophils Ventricular hypertrophy Scapular winging Left ventricular hypertrophy Decreased liver function Abnormal left ventricle morphology Severe sensorineural hearing impairment Thromboembolism Fatigable weakness Acute hepatic failure Lipoatrophy Generalized edema Congenital sensorineural hearing impairment Broad-based gait Neonatal sepsis Proximal tubulopathy Achilles tendon contracture Calf muscle pseudohypertrophy Hepatomegaly Vomiting Diarrhea Tip-toe gait Irritability Shoulder girdle muscle atrophy Pelvic girdle muscle weakness Nephropathy Axial muscle weakness Dehydration Hepatocellular necrosis Cardiomegaly Limb-girdle muscle weakness Cardiac arrest Proximal amyotrophy Calf muscle hypertrophy Increased variability in muscle fiber diameter Gowers sign Skeletal myopathy Hepatic encephalopathy Exercise-induced myoglobinuria Prolonged prothrombin time Microvesicular hepatic steatosis Thin ribs Spasticity Polyhydramnios Retrognathia Blepharospasm Skeletal muscle hypertrophy Respiratory tract infection Ophthalmoparesis Chest pain Genu valgum Falls Pulmonary hypoplasia Frequent falls Muscular edema Joint contracture of the hand Narrow face Foot dorsiflexor weakness Knee flexion contracture Abnormality of the retinal vasculature Congenital contracture Reduced muscle fiber beta sarcoglycan Mildly elevated creatine phosphokinase Bulbar palsy Spinal rigidity Dysesthesia Recurrent respiratory infections Decreased activity of mitochondrial respiratory chain Abnormality of the liver Macrovesicular hepatic steatosis Decreased activity of mitochondrial complex I Nonketotic hypoglycemia Elevated creatine kinase after exercise Increased lactate dehydrogenase activity Elevated plasma acylcarnitine levels Cerebellar hemorrhage Palmoplantar hyperkeratosis Peripheral neuropathy Syncope Small for gestational age Hyporeflexia Pigmentary retinopathy Cholestasis Hydrops fetalis Abnormality of the amniotic fluid Recurrent myoglobinuria Prenatal maternal abnormality Palmoplantar keratoderma Hyperreflexia Abnormality of the skeletal system Fatigue Highly elevated creatine phosphokinase



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