Hyperreflexia, and Ventricular hypertrophy

Diseases related with Hyperreflexia and Ventricular hypertrophy

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

Top matches:

Hypomyelinating leukodystrophy-13 is an autosomal recessive neurodegenerative disorder characterized by infantile onset of delayed psychomotor development, axial hypotonia, and spasticity associated with delayed myelination and periventricular white matter abnormalities on brain imaging. More variable neurologic deficits, such as visual impairment, may also occur. Some patients may experience cardiac failure during acute illness (summary by Edvardson et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see {312080}.

C11ORF73-RELATED AUTOSOMAL RECESSIVE HYPOMYELINATING LEUKODYSTROPHY Is also known as c11orf73-related autosomal recessive hypomyelinating leukoencephalopathy|hypomyelinating leukodystrophy due to hikeshi deficiency

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about C11ORF73-RELATED AUTOSOMAL RECESSIVE HYPOMYELINATING LEUKODYSTROPHY

Childhood-onset spasticity with hyperglycinemia is a rare neurometabolic disease characterized by a childhood onset of progressive spastic ataxia associated with gait disturbances, hyperreflexia, extensor plantar responses and non-ketotic hyperglycinemia typically revealed by biochemical analysis. Additional signs of upper extremity spasticity, dysarthria, learning difficulties, poor concentration, nystagmus, optic atrophy and reduced visual acuity may also be associated.

CHILDHOOD-ONSET SPASTICITY WITH HYPERGLYCINEMIA Is also known as childhood-onset spasticity with variant non-ketotic hyperglycinemia|spasticity-ataxia-gait anomalies syndrome

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHILDHOOD-ONSET SPASTICITY WITH HYPERGLYCINEMIA

Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome is a rare mitochondrial disease due to a defect in coenzyme Q10 biosynthesis that manifests with a broad spectrum of signs and symptoms which may include: neonatal lactic acidosis, global developmental delay, tonus disorder, seizures, reduced spontaneous movements, ventricular hypertrophy, bradycardia, renal tubular dysfunction with massive lactic acid excretion in urine, severe biochemical defect of respiratory chain complexes II/III when assayed together and deficiency of coenzyme Q10 in skeletal muscle. Cerebral and cerebellar atrophy can be seen on magnetic resonance imaging and multiple choroid plexus cysts and symmetrical hyperechoic signal alterations in basal ganglia have been observed on ultrasound.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Feeding difficulties
  • Hyperreflexia


SOURCES: ORPHANET OMIM MENDELIAN

More info about ENCEPHALOPATHY-HYPERTROPHIC CARDIOMYOPATHY-RENAL TUBULAR DISEASE SYNDROME

Other less relevant matches:

Macrocephaly-intellectual disability-left ventricular non compaction syndrome is a rare, genetic, syndromic intellectual disability characterized by motor and cognitive developmental delay with language impairment, macrocephaly, hypotonia, dysmorphic facial features (including long face, slanting palpebral fissures and prominent, flattened nose) and left ventricular noncompaction cardiomyopathy. Patients also present skeletal abnormalities (e.g. scoliosis, finger clinodactyly, pes planus), slender build and shy behavior. Strabismus and various neurological signs (including ataxia, tremor and hyperreflexia) may be associated, as well as epilepsy, autism and MRI findings showing a small cerebellum and abnormalities of the corpus callosum. A phenotypic variant with no cardiac involvement has been reported.

MACROCEPHALY-INTELLECTUAL DISABILITY-LEFT VENTRICULAR NON COMPACTION SYNDROME Is also known as mrxsml|mental retardation, x-linked, syndromic, mircsof-langouet type

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MACROCEPHALY-INTELLECTUAL DISABILITY-LEFT VENTRICULAR NON COMPACTION SYNDROME

Mitochondrial complex II deficiency is an autosomal recessive disorder with a highly variable phenotype. Some patients have multisystem involvement of the brain, heart, muscle, liver, and kidneys resulting in death in infancy, whereas others have only isolated cardiac or muscle involvement with onset in adulthood and normal cognition. Measurement of complex II activity in muscle is the most reliable means of diagnosis; however, there is no clear correlation between residual complex II activity and severity or clinical outcome. In some cases, treatment with riboflavin may have clinical benefit (summary by Jain-Ghai et al., 2013).

ISOLATED SUCCINATE-COQ REDUCTASE DEFICIENCY Is also known as isolated succinate-ubiquinone reductase deficiency|isolated succinate-coenzyme q reductase deficiency|isolated mitochondrial respiratory chain complex ii deficiency|succinate coq reductase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ISOLATED SUCCINATE-COQ REDUCTASE DEFICIENCY

Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing.

FRIEDREICH ATAXIA Is also known as frda1|fa|frda

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about FRIEDREICH ATAXIA

The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure.

CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, NEONATAL FORM Is also known as carnitine palmitoyl transferase deficiency type 2, lethal systemic form|carnitine palmitoyltransferase ii deficiency, neonatal|cpt2 deficiency, lethal neonatal|carnitine palmitoyl transferase ii deficiency, lethal systemic form|carnitine palmitoyltransfer

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Muscular hypotonia
  • Cataract


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, NEONATAL FORM

Glutaric aciduria II (GA2) is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It differs from GA I (GA1 ) in that multiple acyl-CoA dehydrogenase deficiencies result in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. GA II results from deficiency of any 1 of 3 molecules: the alpha (ETFA) and beta (ETFB) subunits of electron transfer flavoprotein, and electron transfer flavoprotein dehydrogenase (ETFDH). The clinical picture of GA II due to the different defects appears to be indistinguishable; each defect can lead to a range of mild or severe cases, depending presumably on the location and nature of the intragenic lesion, i.e., mutation, in each case (Goodman, 1993; Olsen et al., 2003).The heterogeneous clinical features of patients with MADD fall into 3 classes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal and are characterized by severe nonketotic hypoglycemia, metabolic acidosis, multisystem involvement, and excretion of large amounts of fatty acid- and amino acid-derived metabolites. Symptoms and age at presentation of late-onset MADD are highly variable and characterized by recurrent episodes of lethargy, vomiting, hypoglycemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occurs. The organic aciduria in patients with the late-onset form of MADD is often intermittent and only evident during periods of illness or catabolic stress (summary by Frerman and Goodman, 2001).Importantly, riboflavin treatment has been shown to ameliorate the symptoms and metabolic profiles in many MADD patients, particularly those with type III, the late-onset and mildest form (Liang et al., 2009).

MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD Is also known as ema|ethylmalonic-adipicaciduria|glutaric aciduria ii|ga ii|glutaric acidemia ii|ga2

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD

Low match VICI SYNDROME

Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency.

VICI SYNDROME Is also known as immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum|corpus callosum agenesis-cataract-immunodeficiency syndrome|dionisi-vici-sabetta-gambarara syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about VICI SYNDROME

Isolated complex I deficiency is a rare inborn error of metabolism due to mutations in nuclear or mitochondrial genes encoding subunits or assembly factors of the human mitochondrial complex I (NADH: ubiquinone oxidoreductase) and is characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome (see these terms).

ISOLATED COMPLEX I DEFICIENCY Is also known as isolated nadh-ubiquinone reductase deficiency|nadh:q(1) oxidoreductase deficiency|isolated nadh-coq reductase deficiency|isolated mitochondrial respiratory chain complex i deficiency|isolated nadh-coenzyme q reductase deficiency|nadh-coenzyme q reductase

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ISOLATED COMPLEX I DEFICIENCY

Top 5 symptoms//phenotypes associated to Hyperreflexia and Ventricular hypertrophy

Symptoms // Phenotype % cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Feeding difficulties Common - Between 50% and 80% cases
Congestive heart failure Common - Between 50% and 80% cases
Left ventricular hypertrophy Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hyperreflexia and Ventricular hypertrophy. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases

Spasticity

Common Symptoms - More than 50% cases

Ataxia

Uncommon Symptoms - Between 30% and 50% cases

Optic atrophy

Common Symptoms - More than 50% cases

Nystagmus

Uncommon Symptoms - Between 30% and 50% cases

Cardiomyopathy

Common Symptoms - More than 50% cases

Acidosis

Uncommon Symptoms - Between 30% and 50% cases

Hypertrophic cardiomyopathy Respiratory distress Muscle weakness Leukodystrophy Increased serum lactate Respiratory failure Hypertonia Visual impairment Dilated cardiomyopathy Failure to thrive Muscular hypotonia Motor delay Fatigue Lactic acidosis Dystonia Strabismus Respiratory insufficiency Myopathy Abnormal facial shape Muscular hypotonia of the trunk Babinski sign Arrhythmia Ptosis Dysphagia Intellectual disability Cerebellar atrophy Hepatomegaly Feeding difficulties in infancy Agenesis of corpus callosum High palate Lethargy Macrocephaly Hypoglycemia Ketosis Cataract Metabolic acidosis Proximal muscle weakness Vomiting Growth delay Microcephaly Exercise intolerance Ragged-red muscle fibers Hearing impairment Kyphoscoliosis Peripheral neuropathy Areflexia Abnormal cerebellum morphology Limb muscle weakness Neonatal hypotonia Optic neuropathy Hepatic steatosis Respiratory tract infection Coma Dysarthria Cardiomegaly Flexion contracture Abnormal pyramidal sign Developmental regression Encephalopathy Myoclonus Clonus Apnea Gait disturbance

Rare Symptoms - Less than 30% cases

Ketonuria Abnormal mitochondria in muscle tissue Pain Acute pancreatitis Oral-pharyngeal dysphagia Cardiorespiratory arrest Pancreatitis Talipes equinovarus Cardiac arrest Depressivity Decreased liver function Rhabdomyolysis Pigmentary retinopathy Easy fatigability Micrognathia Leukoencephalopathy Gait ataxia Sensorineural hearing impairment Pneumonia Severe global developmental delay Generalized myoclonic seizures Aspiration Generalized muscle weakness Renal tubular acidosis Tetraplegia Aspiration pneumonia Cerebral cortical atrophy Wide anterior fontanel Difficulty walking Nonketotic hypoglycemia Renal insufficiency Elevated serum creatine phosphokinase High forehead Depressed nasal bridge Increased muscle lipid content Elevated hepatic transaminase Macrovesicular hepatic steatosis Low-set ears Biventricular hypertrophy Hypoketotic hypoglycemia Polycystic kidney dysplasia Hyperammonemia Renal dysplasia Polymicrogyria Edema Myalgia Aciduria Optic disc pallor Pallor Heterotopia Abnormality of the foot Abnormality of eye movement Abnormality of movement Progressive cerebellar ataxia Ventricular arrhythmia Abnormality of the liver Slurred speech Incoordination Gliosis Pulmonary hypoplasia Congenital cataract Heart block Hepatic failure Ventriculomegaly Retinopathy High, narrow palate Cerebellar hypoplasia Poor suck Hypothermia Absent speech Kyphosis Pes planus Open mouth Intention tremor Thick vermilion border Cognitive impairment Unsteady gait Tremor Hypoplasia of the corpus callosum Irritability Scoliosis Decreased activity of mitochondrial complex II Abnormality of the renal tubule Weak cry Abnormality of the cerebral white matter Patent ductus arteriosus Severe lactic acidosis Intrauterine growth retardation Diarrhea Blindness Short stature Delayed myelination Left ventricular noncompaction Progressive spasticity Cleft lip Triangular face Ethylmalonic aciduria Sepsis Hypersarcosinemia Fatigable weakness of distal limb muscles Fatigable weakness of neck muscles Coarse facial features Abnormality of branched chain family amino acid metabolism Defective dehydrogenation of isovaleryl CoA and butyryl CoA Hepatic periportal necrosis Electron transfer flavoprotein-ubiquinone oxidoreductase defect Hypospadias Abnormality of blood glucose concentration Recurrent infections Hypertelorism Hypopigmentation of the skin Postnatal growth retardation Neutropenia Sleep disturbance EEG abnormality Recurrent respiratory infections Cleft palate Epicanthus Wide nose Cleft upper lip Anteverted nares Long philtrum Dilatation Abnormality of the periventricular white matter Joint stiffness Immunodeficiency Rod-cone dystrophy Gastrointestinal inflammation Reye syndrome-like episodes Stridor Spastic diplegia Progressive proximal muscle weakness Myoglobinuria Drowsiness Fatigable weakness Acute kidney injury Glycosuria Difficulty climbing stairs Restrictive ventilatory defect Ventricular fibrillation Hemiplegia Chronic fatigue Back pain Poor head control Mutism Spastic tetraparesis Scapular winging Type I diabetes mellitus Short attention span Spastic dysarthria Spastic ataxia Anorexia Excessive daytime somnolence Organic aciduria Reduced protein C activity Hypoglycemic coma Elevated plasma acylcarnitine levels Ketotic hypoglycemia Glutaric acidemia Arthralgia of the hip Narrow forehead Narcolepsy Cataplexy Renal cortical cysts Limb tremor Impaired mastication Personality disorder Exercise-induced myalgia Progressive spastic quadriplegia Glutaric aciduria Oliguria Generalized aminoaciduria Respiratory arrest Loss of ability to walk Abnormal corpus callosum morphology Episodic vomiting Proximal tubulopathy Medulloblastoma Decreased antibody level in blood Lymphopenia Hypotelorism Abnormality of the eye Febrile seizures Migraine Premature birth Brain atrophy Dyskinesia Stage 5 chronic kidney disease Talipes Stroke Mental deterioration Hyporeflexia Congenital diaphragmatic hernia Hernia Atrial septal defect Skeletal muscle atrophy Anemia Acute bronchitis White matter neuronal heterotopia Severe T-cell immunodeficiency Penile hypospadias Immunoglobulin IgG2 deficiency Ureteral atresia Cyanosis Coarctation of aorta Decreased T cell activation Corpus callosum atrophy Acute necrotizing encephalopathy Congenital lactic acidosis Necrotizing encephalopathy Progressive macrocephaly Cardiogenic shock Infantile encephalopathy Axial dystonia Decreased activity of mitochondrial respiratory chain Stiff neck Cerebral edema Wolff-Parkinson-White syndrome Horizontal nystagmus Increased CSF lactate Nemaline bodies Mitochondrial myopathy Progressive encephalopathy Basal ganglia calcification Poor eye contact Pericardial effusion Global brain atrophy Adrenal insufficiency Shock Aplasia/Hypoplasia of the macula Cutaneous anergy Cerebellar vermis hypoplasia Congenital sensorineural hearing impairment IgG deficiency Severe sensorineural hearing impairment Hypopigmentation of hair Abnormality of immune system physiology Centrally nucleated skeletal muscle fibers Bronchitis Macular atrophy Neurodevelopmental delay Combined immunodeficiency Albinism Adducted thumb Depressed nasal tip Infantile muscular hypotonia Aplasia/Hypoplasia of the corpus callosum Leukopenia Recurrent bacterial infections Increased body weight Pachygyria Progressive microcephaly Abnormality of retinal pigmentation Decreased body weight Progressive neurologic deterioration Severe failure to thrive Ocular albinism Abnormal immunoglobulin level Pontocerebellar atrophy Frontoparietal polymicrogyria Schizencephaly Abnormal macular morphology Muscle flaccidity Abnormality of the cerebellar vermis Abnormality of the thymus Abnormality of the optic disc Recurrent aspiration pneumonia Decreased proportion of CD4-positive T cells Abnormality of the mandible Granulocytopenia Renal tubular dysfunction Abnormal posturing Recurrent fungal infections Hypopigmentation of the fundus Cellular immunodeficiency Hypoplasia of the thymus Recurrent viral infections Abnormal cortical gyration Chronic mucocutaneous candidiasis Hypoplasia of the pons Fair hair Hyperglycinemia Loss of ability to walk in early childhood Abnormality of the genital system Muscle stiffness Impaired vibratory sensation Dysdiadochokinesis Cachexia Aggressive behavior Joint laxity Wide mouth Reduced tendon reflexes Spastic paraparesis Paraparesis Truncal ataxia Sensory axonal neuropathy Insulin resistance Spastic gait Limb ataxia Lower limb spasticity Involuntary movements Clumsiness Palpitations Atrial fibrillation Abnormal cardiac septum morphology Hammertoe Decreased motor nerve conduction velocity Sensory impairment Hyposmia Lower limb amyotrophy Abnormal echocardiogram Poor fine motor coordination T-wave inversion Subvalvular aortic stenosis Asymmetric septal hypertrophy Impaired proprioception Gait imbalance Spinocerebellar tract degeneration Areflexia of lower limbs Glucose intolerance Myocardial fibrosis Increased reactive oxygen species production Ketoacidosis Urinary bladder sphincter dysfunction Gastroesophageal reflux Abnormality of visual evoked potentials Abnormal EKG Thoracic scoliosis Hyperactive deep tendon reflexes Visual field defect Peripheral demyelination Chorea Abnormality of cardiovascular system physiology Preeclampsia Thickened calvaria Stress/infection-induced lactic acidosis Left ventricular systolic dysfunction Ankylosis Progressive leukoencephalopathy Increased intramyocellular lipid droplets Hemolytic-uremic syndrome Paraganglioma Mild global developmental delay Right ventricular hypertrophy Patent foramen ovale Slender build Speech apraxia Perseveration Increased head circumference External ophthalmoplegia Deviated nasal septum Congenital hip dislocation Mitral regurgitation Spastic tetraplegia Dementia Hallux valgus Nasal speech Chest pain Lower limb muscle weakness Short philtrum Neurodegeneration Sensory neuropathy Inability to walk Falls Tachycardia Peripheral axonal neuropathy Vertigo Dysmetria Delayed puberty Relative macrocephaly Poor speech Long face Prominent nose Reduced visual acuity Hyperactivity Diabetes mellitus Pes cavus Dental crowding Visual loss Widely spaced teeth Positive Romberg sign Abnormal saccadic eye movements Tetraparesis Bradycardia Antenatal intracerebral hemorrhage Intracerebral periventricular calcifications Tapered toe Decreased plasma free carnitine Hepatic calcification Basal ganglia cysts Elevated long chain fatty acids Decreased fetal movement Postnatal microcephaly Increased total bilirubin Elevated serum long-chain fatty acids Dicarboxylic aciduria Aminoaciduria Abnormality of nervous system morphology Long toe Ureteral duplication Cystic renal dysplasia Opisthotonus Enlarged kidney Hyperkalemia Cerebral hemorrhage Decreased plasma total carnitine Long-chain dicarboxylic aciduria Overfolded helix Ophthalmoplegia Waddling gait Decreased activity of the pyruvate dehydrogenase complex Muscle cramps Renal cyst Nonketotic hyperglycinemia Nausea Joint hyperflexibility Nausea and vomiting Spinal cord lesion Abnormality of the pinna Small for gestational age Hyperlordosis Telecanthus Jaundice Arthralgia Dyspnea Weight loss Headache Behavioral abnormality Cerebral atrophy Fever Hypoplastic toenails Hypokinesia Sinus tachycardia Muscular subvalvular aortic stenosis Structural foot deformity Abolished vibration sense Spinal cord posterior columns myelin loss Palmar hyperhidrosis Temporal optic disc pallor Abnormality of the dentate nucleus Decreased pyruvate carboxylase activity Mitochondrial malic enzyme reduced Cervical spinal cord atrophy Decreased amplitude of sensory action potentials Atrophic superior cerebellar peduncle Hemifacial hypertrophy Abnormality of the autonomic nervous system Incomprehensible speech Upper limb amyotrophy Cerebellar cortical atrophy Concentric hypertrophic cardiomyopathy Diabetic ketoacidosis Decreased sensory nerve conduction velocity Reduced systolic function Hand muscle atrophy Impaired visually enhanced vestibulo-ocular reflex Autism Narrow palate Abnormal enzyme/coenzyme activity Knee flexion contracture Multicystic kidney dysplasia Elbow flexion contracture Oligohydramnios Sloping forehead Wide intermamillary distance Abnormal renal physiology Hyperalaninemia Tapered finger Bulbous nose Narrow mouth Decreased activity of mitochondrial complex III Cryptorchidism Hydronephrosis Myopia Frontal bossing Prominent forehead Posteriorly rotated ears Ventricular septal defect Malar flattening Upslanted palpebral fissure Exercise-induced lactic acidemia


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