Edema, and Dystonia

Diseases related with Edema and Dystonia

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

Top matches:

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

KCNQ2-related epileptic encephalopathy is a severe form of neonatal epilepsy that usually manifests in newborns during the first week of life with seizures (that affect alternatively both sides of the body), often accompanied by clonic jerking or more complex motor behavior, as well as signs of encephalopathy such as diffuse hypotonia, limb spasticity, lack of visual fixation and tracking and mild to moderate intellectual deficiency. The severity can range from controlled to intractable seizures and mild/moderate to severe intellectual disability.

KCNQ2-RELATED EPILEPTIC ENCEPHALOPATHY Is also known as kcnq2-related neonatal epileptic encephalopathy|kcnq2-nee

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Muscular hypotonia
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about KCNQ2-RELATED EPILEPTIC ENCEPHALOPATHY

Dystonia-9 is an autosomal dominant neurologic disorder characterized by childhood onset of paroxysmal choreoathetosis and progressive spastic paraplegia. Most show some degree of cognitive impairment. Other variable features may include seizures, migraine headaches, and ataxia (summary by Weber et al., 2011).

PAROXYSMAL DYSTONIC CHOREATHETOSIS WITH EPISODIC ATAXIA AND SPASTICITY Is also known as dyt9|cse choreoathetosis, paroxysmal, with episodic ataxia|episodic choreoathetosis/spasticity|choreoathetosis, kinesigenic, with episodic ataxia and spasticity|choreoathetosis/spasticity, episodic

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Spasticity
  • Cognitive impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PAROXYSMAL DYSTONIC CHOREATHETOSIS WITH EPISODIC ATAXIA AND SPASTICITY

Other less relevant matches:

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

Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency is a rare inborn error of metabolism disease characterized by mild to moderate, persistent elevation of methylmalonic acid in plasma, urine and cerebrospinal fluid. Clinical presentation may include acute metabolic decompensation with metabolic acidosis (presenting with vomiting, dehydration, confusion, hallucinations), nonspecific neurological symptoms, or may also be asymptomatic.

METHYLMALONIC ACIDEMIA DUE TO METHYLMALONYL-COA EPIMERASE DEFICIENCY Is also known as methylmalonic acidemia due to methylmalonyl-coa racemase deficiency|methylmalonyl-coa racemase deficiency|methylmalonic aciduria due to methylmalonyl-coa racemase deficiency|methylmalonic aciduria due to methylmalonyl-coa epimerase deficiency|mcee deficie

Related symptoms:

  • Failure to thrive
  • Spasticity
  • Motor delay
  • Macrocephaly
  • Hydrocephalus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about METHYLMALONIC ACIDEMIA DUE TO METHYLMALONYL-COA EPIMERASE DEFICIENCY

Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency is a rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by lactic acidosis, hypotonia, hypertrophic cardiomyopathy and global developmental delay. Other clinical features include feeding difficulties, failure to thrive, seizures, optic atrophy and ataxia.

MITOCHONDRIAL HYPERTROPHIC CARDIOMYOPATHY WITH LACTIC ACIDOSIS DUE TO MTO1 DEFICIENCY Is also known as cardiomyopathy, infantile hypertrophic mitochondrial, and lactic acidosis|coxpd10|combined oxidative phosphorylation defect type 10

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MITOCHONDRIAL HYPERTROPHIC CARDIOMYOPATHY WITH LACTIC ACIDOSIS DUE TO MTO1 DEFICIENCY

3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is an inherited disorder of leucine metabolism characterized by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults.

3-METHYLCROTONYL-COA CARBOXYLASE DEFICIENCY Is also known as mcc1 deficiency|3-methylcrotonylglycinuria i|mccd|3-methylcrotonylglycinuria|methylcrotonylglycinuria type i|mccd type 1|mcc deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Growth delay


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 3-METHYLCROTONYL-COA CARBOXYLASE DEFICIENCY

Combined malonic and methylmalonic acidemia is a rare inborn error of metabolism characterized by elevation of malonic acid (MA) and methylmalonic acid (MMA) in body fluids, with higher levels of MMA than MA. CMAMMA presents in childhood with metabolic acidosis, developmental delay, dystonia and failure to thrive or in adulthood with seizures, memory loss and cognitive decline.

COMBINED MALONIC AND METHYLMALONIC ACIDEMIA Is also known as combined malonic and methylmalonic aciduria|cmamma

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COMBINED MALONIC AND METHYLMALONIC ACIDEMIA

NEK9-related lethal skeletal dysplasia is a rare, lethal, primary bone dysplasia characterized by fetal akinesia, multiple contractures, shortening of all long bones, short, broad ribs, narrow chest and thorax, pulmonary hypoplasia and a protruding abdomen. Short bowed femurs may also be associated.

NEK9-RELATED LETHAL SKELETAL DYSPLASIA Is also known as lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia-pulmonary hypoplasia syndrome

Related symptoms:

  • Micrognathia
  • Flexion contracture
  • High palate
  • Intrauterine growth retardation
  • Ventricular septal defect


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEK9-RELATED LETHAL SKELETAL DYSPLASIA

Mitochondrial DNA depletion syndrome-6 is an autosomal recessive disorder characterized by infantile onset of progressive liver failure, often leading to death in the first year of life. Those that survive develop progressive neurologic involvement, including ataxia, hypotonia, dystonia, and psychomotor regression (Spinazzola et al., 2008).For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 (OMIM ).

NAVAJO NEUROHEPATOPATHY Is also known as nnh|navajo neurohepatopathy|nn|navajo neuropathy

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Ataxia
  • Growth delay


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about NAVAJO NEUROHEPATOPATHY

Top 5 symptoms//phenotypes associated to Edema and Dystonia

Symptoms // Phenotype % cases
Failure to thrive Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Spasticity Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Vomiting Diarrhea Acidosis Hypoglycemia Generalized hypotonia Dehydration Ataxia Growth delay Muscle weakness Aciduria Metabolic acidosis Apnea Feeding difficulties Muscular hypotonia Ketonuria

Rare Symptoms - Less than 30% cases

Methylmalonic aciduria Methylmalonic acidemia Tachypnea Hepatomegaly Gastroesophageal reflux Involuntary movements Lactic acidosis Elevated hepatic transaminase Cardiomegaly Motor delay Areflexia Coma Ketoacidosis Abnormality of the cerebral white matter Hyperreflexia Cognitive impairment Gait disturbance Hemiparesis Leukodystrophy Abnormality of the cerebral vasculature Short neck Cerebral palsy Hyperammonemia Failure to thrive in infancy Opisthotonus Poor appetite Drowsiness Long philtrum Abnormality of leucine metabolism Talipes equinovarus Organic aciduria Microcephaly Ventricular septal defect Intrauterine growth retardation High palate Flexion contracture Neutrophilia Micrognathia Generalized clonic seizures Memory impairment Acute hepatic steatosis Mental deterioration Muscular hypotonia of the trunk Episodic metabolic acidosis Acute hyperammonemia Pneumonia Adducted thumb Skeletal dysplasia Abnormality of the immune system Hepatic steatosis Sensory neuropathy Progressive neurologic deterioration Cholestasis Decreased liver function Sensorimotor neuropathy Increased body weight Increased susceptibility to fractures Decreased number of peripheral myelinated nerve fibers Prolonged neonatal jaundice Arthropathy Cirrhosis Acute hepatic failure Recurrent corneal erosions Periventricular leukomalacia Pain insensitivity Microvesicular hepatic steatosis Macrovesicular hepatic steatosis Corneal ulceration Acral ulceration Painless fractures due to injury Endometriosis Reye syndrome-like episodes Hepatic failure Distal muscle weakness Narrow chest Overlapping fingers Pulmonary hypoplasia Oligohydramnios Omphalocele Hydrops fetalis Narrow palate Torticollis Focal-onset seizure Akinesia Femoral bowing Thoracic scoliosis Fetal akinesia sequence Broad ribs Abnormality of the liver Hypoplasia of the thymus Lethal skeletal dysplasia Stiff neck Overriding aorta Short stature Nystagmus Pain Peripheral neuropathy Hyporeflexia Jaundice Developmental regression Intellectual disability, profound Wolff-Parkinson-White syndrome Brain atrophy Brisk reflexes Dyskinesia Postural instability Migraine Choreoathetosis Diplopia Clonus Paraparesis Spastic paraparesis Progressive spastic paraplegia Paraplegia Episodic ataxia Morphological abnormality of the pyramidal tract Progressive spastic paraparesis Paroxysmal dyskinesia Paroxysmal choreoathetosis Dysphagia Myopathy Hypertonia Paresthesia Generalized tonic-clonic seizures Dyspnea Profound global developmental delay Hypoplasia of the corpus callosum Cerebral atrophy Pallor Inability to walk Epileptic encephalopathy Hypsarrhythmia Epileptic spasms Cerebral edema Facial erythema Spastic paraplegia Generalized tonic seizures Abnormal globus pallidus morphology EEG with burst suppression Poor gross motor coordination Dysarthria Headache Babinski sign Abnormal pyramidal sign Elevated serum creatine phosphokinase Myalgia Gliosis Respiratory insufficiency Bradycardia Infantile muscular hypotonia Pleural effusion Aspiration pneumonia Sinus bradycardia Severe lactic acidosis Hyperalaninemia Decreased activity of mitochondrial respiratory chain Respiratory failure Ascites Feeding difficulties in infancy Irritability Stroke Severe global developmental delay Lethargy Abnormality of movement Nausea Tetraplegia Increased serum lactate Tachycardia Muscle cramps Muscular edema Chest pain EMG abnormality Ophthalmoparesis Myotonia Skeletal muscle hypertrophy Hyperkalemia Blepharospasm Dysesthesia Macrocephaly Poor speech Hydrocephalus Optic atrophy Cardiomyopathy Congestive heart failure Encephalopathy Arrhythmia Hypertrophic cardiomyopathy Small for gestational age Osteomyelitis leading to amputation due to slow healing fractures


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