Edema, and Myoclonus

Diseases related with Edema and Myoclonus

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

Top matches:

Alzheimer disease is the most common form of progressive dementia in the elderly. It is a neurodegenerative disorder characterized by the neuropathologic findings of intracellular neurofibrillary tangles (NFT) and extracellular amyloid plaques that accumulate in vulnerable brain regions (Sennvik et al., 2000). Terry and Davies (1980) pointed out that the 'presenile' form, with onset before age 65, is identical to the most common form of late-onset or 'senile' dementia, and suggested the term 'senile dementia of the Alzheimer type' (SDAT).Haines (1991) reviewed the genetics of AD. Selkoe (1996) reviewed the pathophysiology, chromosomal loci, and pathogenetic mechanisms of Alzheimer disease. Theuns and Van Broeckhoven (2000) reviewed the transcriptional regulation of the genes involved in Alzheimer disease. Genetic Heterogeneity of Alzheimer DiseaseAlzheimer disease is a genetically heterogeneous disorder. See also AD2 (OMIM ), associated with the APOE*4 allele (OMIM ) on chromosome 19; AD3 (OMIM ), caused by mutation in the presenilin-1 gene (PSEN1 ) on 14q; and AD4 (OMIM ), caused by mutation in the PSEN2 gene (OMIM ) on 1q31.There is evidence for additional AD loci on other chromosomes; see AD5 (OMIM ) on 12p11, AD6 (OMIM ) on 10q24, AD7 (OMIM ) on 10p13, AD8 (OMIM ) on 20p, AD9 (OMIM ), associated with variation in the ABCA7 gene (OMIM ) on 19p13, AD10 (OMIM ) on 7q36, AD11 (OMIM ) on 9q22, AD12 (OMIM ) on 8p12-q22, AD13 (OMIM ) on 1q21, AD14 (OMIM ) on 1q25, AD15 (OMIM ) on 3q22-q24, AD16 (OMIM ) on Xq21.3, AD17 (OMIM ) on 6p21.2, and AD18 (OMIM ), associated with variation in the ADAM10 gene (OMIM ) on 15q21.Evidence also suggests that mitochondrial DNA polymorphisms may be risk factors in Alzheimer disease (OMIM ).Finally, there have been associations between AD and various polymorphisms in other genes, including alpha-2-macroglobulin (A2M; {103950.0005}), low density lipoprotein-related protein-1 (LRP1 ), the transferrin gene (TF ), the hemochromatosis gene (HFE ), the NOS3 gene (OMIM ), the vascular endothelial growth factor gene (VEGF ), the ABCA2 gene (OMIM ), and the TNF gene (OMIM ) (see MOLECULAR GENETICS).

ALZHEIMER DISEASE; AD Is also known as presenile and senile dementia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Spasticity
  • Cognitive impairment
  • Edema


SOURCES: OMIM MENDELIAN

More info about ALZHEIMER DISEASE; AD

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

DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA Is also known as hrs|ataxia, chorea, seizures, and dementia|haw river syndrome|nod|naito-oyanagi disease|myoclonic epilepsy with choreoathetosis

Related symptoms:

  • Seizures
  • Ataxia
  • Nystagmus
  • Cognitive impairment
  • Dysarthria


SOURCES: OMIM MENDELIAN

More info about DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA

Other less relevant matches:

general increase in bulk of a muscle due to an increase in cell volume; it is not due to tumor formation, nor to an increase in the number of cells.

Related symptoms:

  • Myoclonus
  • Skeletal muscle hypertrophy


SOURCES: OMIM ORPHANET MENDELIAN

More info about MYOSTATIN-RELATED MUSCLE HYPERTROPHY

PEHO-like syndrome is a rare, genetic neurological disease characterized by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb edema, severe hypotonia, early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated.

PEHO-LIKE SYNDROME Is also known as progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about PEHO-LIKE SYNDROME

Early infantile epileptic encephalopathy-11 is an autosomal dominant seizure disorder characterized by infantile onset of refractory seizures with resultant delayed neurologic development and persistent neurologic abnormalities (Ogiwara et al., 2009).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11; EIEE11

Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 1 is a very rare and severe type of NAGA deficiency (see this term) characterized by infantile neuroaxonal dystrophy.

ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 1 Is also known as schindler disease type 1|naga deficiency type 1

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Nystagmus
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 1

Lipoic acid synthetase deficiency is a rare neurometabolic disease characterized by a neonatal onset of seizures (often intractable), muscular hypotonia, feeding difficulties (poor sucking and/or swallowing) and mild to severe psychomotor delay, associated with nonketotic hyperglycinemia typically revealed by biochemical analysis. Respiratory problems (apnea, acute respiratory acidosis), lethargy, hearing loss, microcephaly and spasticity with pyramidal signs may also be associated.

LIPOIC ACID SYNTHETASE DEFICIENCY Is also known as pyruvate dehydrogenase lipoic acid synthetase deficiency|pdhld

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about LIPOIC ACID SYNTHETASE DEFICIENCY

Mitochondrial myopathy and sideroblastic anemia belongs to the heterogeneous family of metabolic myopathies. It is characterised by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anaemia around adolescence, lactic acidaemia, and mitochondrial myopathy.

MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA Is also known as msa|mlasa|myopathy, lactic acidosis and sideroblastic anemia|mitochondrial myopathy and sideroblastic anemia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Microcephaly
  • Scoliosis
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA

PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation is a rare, genetic neurological disease, with a highly variable phenotype, typically characterized by neonatal hypotonia, respiratory and feeding difficulties, global development delay (often with nonverbal and frequently non-ambulatory progression) and myopathic facies. Other frequently present features include seizures (or seizure-like episodes), visual impairment and encephalopathy.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PURA-RELATED SEVERE NEONATAL HYPOTONIA-SEIZURES-ENCEPHALOPATHY SYNDROME DUE TO A POINT MUTATION

Top 5 symptoms//phenotypes associated to Edema and Myoclonus

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Encephalopathy Common - Between 50% and 80% cases
Microcephaly Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Spasticity Generalized hypotonia Nystagmus Feeding difficulties Short nose Hypoplasia of the corpus callosum Optic atrophy Cerebral atrophy Cerebellar atrophy Neonatal hypotonia Brain atrophy

Rare Symptoms - Less than 30% cases

Open mouth Ventriculomegaly Strabismus Cognitive impairment Increased serum lactate Dementia Epicanthus Stroke Mental deterioration Muscular hypotonia Absent speech Spastic tetraplegia Epileptic encephalopathy Hypsarrhythmia Status epilepticus Ptosis Progressive microcephaly High palate Muscle weakness Motor delay Lactic acidosis Abnormal pyramidal sign Failure to thrive Respiratory insufficiency Neuronal loss in central nervous system Cerebral visual impairment Stroke-like episode Hypertrophic cardiomyopathy Acidosis Delayed myelination Apnea Ataxia Nonketotic hyperglycinemia Anemia Abnormality of brainstem morphology Growth delay Myopathy Micrognathia Kyphosis Scoliosis Profound global developmental delay Flexion contracture Decreased activity of the pyruvate dehydrogenase complex Hyperglycinemia Cerebral edema Severe global developmental delay Poor suck Spastic tetraparesis Leukodystrophy Hydrocephalus Cardiomyopathy Tetraparesis Sleep disturbance Respiratory tract infection Long philtrum Deep philtrum Abnormality of metabolism/homeostasis Telecanthus Hypertelorism Abnormal facial shape Visual impairment Prominent forehead Upslanted palpebral fissure High forehead Anxiety Broad forehead Overlapping toe Dolichocephaly Bilateral ptosis Facial asymmetry Precocious puberty Unsteady gait Esotropia Broad-based gait Cafe-au-lait spot Chronic lactic acidosis Myopathic facies Glaucoma Microcytic anemia Pallor Delayed puberty Progressive muscle weakness EMG abnormality CNS hypomyelination Exercise intolerance Ragged-red muscle fibers Increased serum ferritin Generalized limb muscle atrophy Mitochondrial myopathy Distichiasis Generalized amyotrophy Sideroblastic anemia Hypochromic anemia Cytochrome C oxidase-negative muscle fibers Neurodevelopmental delay Erythroid hyperplasia Telangiectasia of the skin Excessive daytime sleepiness Hemiplegia/hemiparesis Cerebellar hypoplasia Basal ganglia calcification Atrophy of the dentate nucleus Fetal cystic hygroma Skeletal muscle hypertrophy Hyperreflexia Hypertonia Kyphoscoliosis Involuntary movements Retrognathia Polymicrogyria Tapered finger Full cheeks Sloping forehead Narrow forehead Personality changes Choreoathetosis Pachygyria Lewy bodies Aggressive behavior Neurodegeneration Parkinsonism Memory impairment Alzheimer disease Neurofibrillary tangles Senile plaques Peripheral demyelination Cerebral amyloid angiopathy Long-tract signs Decreased level of GABA in serum Dysarthria Dilatation Generalized myoclonic seizures Chorea Intellectual disability, profound Severe muscular hypotonia Aplasia/Hypoplasia of the cerebellum Hyperkeratosis Hyperventilation Megalencephaly Hearing impairment Peripheral neuropathy Hepatomegaly Intellectual disability, severe Autism Infantile spasms Developmental regression Paresthesia Vertigo Sensory neuropathy Abnormality of extrapyramidal motor function Telangiectasia Lymphedema Atonic seizures Global brain atrophy Central hypotonia Abnormality of the eye Infantile encephalopathy Pain Vomiting Headache Abnormality of the nervous system Muscular hypotonia of the trunk Paralysis Hyponatremia Generalized tonic-clonic seizures Abnormality of eye movement Febrile seizures Cerebral calcification Slurred speech Back pain Language impairment Facial hypotonia


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Autoimmunity and Omphalocele, related diseases and genetic alterations Intellectual disability, severe and Hypothyroidism, related diseases and genetic alterations Macrocephaly and Apraxia, related diseases and genetic alterations