Hydrocephalus, and Myoclonus

Diseases related with Hydrocephalus and Myoclonus

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

Top matches:

Sporadic Creutzfeldt-Jakob disease (sCJD) is a subacute fatal neurodegenerative disease belonging to the group of prion diseases, characterized by a clinical triad of dementia, myoclonus, and EEG anomalies, along with neuropathological evidence of neuronal loss, spongiform changes, and astrocytosis. There are three types of CJD: sporadicCJD (sCJD), inherited CJD (see this term), and iatrogenic and variant CJD (vCJD).

SPORADIC CREUTZFELDT-JAKOB DISEASE Is also known as sporadic cjd|creutzfeldt-jakob disease, familial

Related symptoms:

  • Ataxia
  • Cataract
  • Spasticity
  • Visual impairment
  • Peripheral neuropathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPORADIC CREUTZFELDT-JAKOB DISEASE

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

Early infantile epileptic encephalopathy-49 is a severe autosomal recessive neurologic disorder characterized by onset of seizures in the neonatal period, global developmental delay with intellectual disability and lack of speech, hypotonia, spasticity, and coarse facial features. Some patients may have brain calcifications on imaging (summary by Han et al., 2016).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, 49; EIEE49

Other less relevant matches:

Molybdenum cofactor deficiency (MOCOD) is a rare autosomal recessive metabolic disorder characterized by onset in infancy of poor feeding, intractable seizures, and severe psychomotor retardation. Characteristic biochemical abnormalities include decreased serum uric acid and increased urine sulfite levels due to the combined enzymatic deficiency of xanthine dehydrogenase (XDH ) and sulfite oxidase (SUOX ), both of which use molybdenum as a cofactor. Most affected individuals die in early childhood (summary by Reiss, 2000; Reiss et al., 2011). Genetic Heterogeneity of Molybdenum Cofactor DeficiencySee also MOCOD, complementation group B (MOCODB ), caused by mutation in the MOCS2 gene (OMIM ) on chromosome 5q11; and MOCOD, complementation group C (MOCODC ), caused by mutation in the GPHN gene (OMIM ) on chromosome 14q24.

SULFITE OXIDASE DEFICIENCY DUE TO MOLYBDENUM COFACTOR DEFICIENCY TYPE A Is also known as sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase, combined deficiency of|combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type a|mocod type a

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about SULFITE OXIDASE DEFICIENCY DUE TO MOLYBDENUM COFACTOR DEFICIENCY TYPE A

Neonatal glycine encephalopathy is a frequent, usually severe form of glycine encephalopathy (GE; see this term) characterized by coma, apnea, hypotonia, seizure and myoclonic jerks in the neonatal period, and subsequent developmental delay.

NEONATAL GLYCINE ENCEPHALOPATHY Is also known as classic glycine encephalopathy|neonatal nkh|nkh|neonatal non-ketotic hyperglycinemia|hyperglycinemia, nonketotic

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEONATAL GLYCINE ENCEPHALOPATHY

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 (OMIM ), collectively known as 'dystroglycanopathies' (summary by Godfrey et al., 2007).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCLE-EYE-BRAIN DISEASE Is also known as meb syndrome|santavuori congenital muscular dystrophy|walker-warburg syndrome or muscle-eye-brain disease, pomgnt1-related|muscle-eye-brain syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MUSCLE-EYE-BRAIN DISEASE

Low match PEHO SYNDROME

PEHO (Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy) syndrome is a rare neurodegenerative disorder belonging to the group of infantile progressive encephalopathies.

PEHO SYNDROME Is also known as progressive encephalopathy-optic atrophy syndrome|progressive encephalopathy with edema, hypsarrhythmia and optic atrophy|progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy|infantile cerebellooptic atrophy

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PEHO SYNDROME

Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term).

GAUCHER DISEASE TYPE 3 Is also known as chronic neuronopathic gaucher disease|cerebral juvenile and adult form of gaucher disease|gaucher disease, subacute neuronopathic type

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about GAUCHER DISEASE TYPE 3

Low match FRYNS SYNDROME

Fryns syndrome (FS) is a multiple congenital anomaly syndrome characterized by dysmorphic facial features, congenital diaphragmatic hernia, pulmonary hypoplasia, and distal limb hypoplasia, in addition to variable expression of additional malformations.

FRYNS SYNDROME Is also known as diaphragmatic hernia, abnormal face, and distal limb anomalies|diaphragmatic hernia-abnormal face-distal limb anomalies syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about FRYNS SYNDROME

Top 5 symptoms//phenotypes associated to Hydrocephalus and Myoclonus

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Severe global developmental delay

Uncommon Symptoms - Between 30% and 50% cases

Encephalopathy Ventriculomegaly Hyperreflexia Spasticity Hypoplasia of the corpus callosum Intellectual disability, profound Edema Optic atrophy Feeding difficulties EEG abnormality Hypertonia Spastic tetraplegia Agenesis of corpus callosum Intellectual disability, severe Growth delay Nystagmus Flexion contracture Gliosis Cerebral atrophy Neuronal loss in central nervous system Ataxia Blindness Cerebellar hypoplasia

Rare Symptoms - Less than 30% cases

Dilatation Tented upper lip vermilion Recurrent respiratory infections Feeding difficulties in infancy Long philtrum Short nose Cerebral cortical atrophy Cataract Abnormality of the eye Macrocephaly Abnormal facial shape Abnormality of eye movement Holoprosencephaly Hypertelorism Full cheeks Open mouth Dandy-Walker malformation Everted lower lip vermilion Atrophy/Degeneration affecting the brainstem Coarse facial features Macrotia Hyperactivity Absent speech Scoliosis Corneal opacity Anteverted nares Retinal dysplasia Microphthalmia Neonatal hypotonia Midface retrusion Malar flattening Gait disturbance Myopia Strabismus Micrognathia Infantile spasms Leukopenia Hypsarrhythmia Aggressive behavior Pallor Abnormality of movement Infantile muscular hypotonia Visual loss Thrombocytopenia Vomiting Polymicrogyria Muscular hypotonia Opisthotonus Progressive microcephaly Brain atrophy Pachygyria Opacification of the corneal stroma Severe muscular hypotonia Abnormality of the nervous system Retrognathia Frontal bossing Anxiety Motor delay Failure to thrive Supranuclear gaze palsy Choreoathetosis Abnormal pyramidal sign Irritability Mental deterioration Rigidity Apnea Dementia Depressivity Behavioral abnormality Myopathy Tremor Nonketotic hyperglycinemia Visual impairment Acidosis Neurodegeneration Tetraparesis Spastic tetraparesis Hyperglycinemia Poor suck Abnormality of the spleen Aortic valve calcification Horizontal supranuclear gaze palsy Hematological neoplasm Decreased beta-glucocerebrosidase protein and activity Erlenmeyer flask deformity of the femurs Orthopnea Mitral valve calcification Abnormal saccadic eye movements Spontaneous hematomas Avascular necrosis of the capital femoral epiphysis Abnormal thrombosis Abnormality of ion homeostasis Generalized osteosclerosis Astrocytosis Protein-losing enteropathy Hypoplasia of olfactory tract Restrictive deficit on pulmonary function testing Cardiac valve calcification Sleep myoclonus Abnormality of the acoustic reflex Facial hirsutism Clinodactyly of the 5th finger Areflexia Clinodactyly Urethral stricture Hypospadias Broad clavicles Abnormal aortic arch morphology Hernia Abnormality of cardiovascular system morphology Atrial septal defect Multiple myeloma Respiratory distress Short neck Ventricular septal defect Abnormality of the skeletal system Wide nasal bridge High palate Low-set ears Cryptorchidism Cleft palate Abnormal myocardium morphology Vertebral compression fractures Hypercoagulability Intention tremor Increased susceptibility to fractures Oculomotor apraxia Osteolysis Increased bone mineral density Lymphopenia Bone pain Hydrops fetalis Decreased body weight Progressive neurologic deterioration Epistaxis Cholelithiasis Pulmonary arterial hypertension Pancytopenia Cyanosis Syncope Ectopic pancreatic tissue Abnormal bleeding Progressive cerebellar ataxia Generalized myoclonic seizures Abdominal distention Hypoalbuminemia Portal hypertension Gastroesophageal reflux Abnormality of the sternum Slow saccadic eye movements Postaxial oligodactyly Thoracic kyphosis Absent left hemidiaphragm Hepatocellular carcinoma Aseptic necrosis Abnormal heart valve morphology Exertional dyspnea Bulbar palsy Lower limb hyperreflexia Abnormality of the thorax Abnormal retinal morphology Pericardial effusion Interstitial pulmonary abnormality Restrictive ventilatory defect Petechiae Increased antibody level in blood Pulmonary fibrosis Menorrhagia Clubbing Polyhydramnios Gastroschisis Arrhinencephaly Hypoplastic nipples Truncus arteriosus Bilateral cleft lip Thickened nuchal skin fold Broad neck Median cleft lip Overweight Esophageal atresia Shawl scrotum Oligodactyly Thin ribs Bilateral cleft lip and palate Cystic hygroma Partial agenesis of the corpus callosum Non-midline cleft lip Hypoplasia of the uterus Thoracic hypoplasia Abnormality of the diaphragm Hydroureter Anonychia Large for gestational age Polysplenia Abnormality of finger Anophthalmia Bifid nose Aplasia cutis congenita of scalp Chylothorax Shortening of all distal phalanges of the fingers Abnormal aortic morphology Meckel diverticulum Absent nipple Interrupted aortic arch Ureteral duplication Gastroparesis Cystic renal dysplasia Asplenia Prominent fingertip pads Aplasia/Hypoplasia of the nipples Ovarian cyst Abnormality of the helix Bicornuate uterus Broad ribs Hypoplastic fingernail Duodenal atresia Ectopic anus Rocker bottom foot Bifid scrotum Thin upper lip vermilion Anal atresia Intestinal malrotation Vesicoureteral reflux Renal cyst Single transverse palmar crease Postaxial polydactyly Short distal phalanx of finger Pulmonary hypoplasia Bilateral choanal atresia Cleft upper lip Narrow chest Wide intermamillary distance Hematuria Broad forehead Abnormal cardiac septum morphology Blepharophimosis Wide mouth Camptodactyly Low-set, posteriorly rotated ears Cleft lip Hydronephrosis Premature birth Renal agenesis Proximal placement of thumb Amblyopia Pterygium Abnormality of the genitourinary system Abnormality of the outer ear Microretrognathia Narrow palpebral fissure Finger clinodactyly Multicystic kidney dysplasia Joint contracture of the hand Short thumb Renal dysplasia Tetralogy of Fallot Abnormality of the face Aganglionic megacolon Heterotopia Omphalocele Choanal atresia Depressed nasal ridge Small nail Coarctation of aorta Congenital diaphragmatic hernia Limb undergrowth Ascites Dyspnea Cirrhosis Muscle fibrillation Coma Neutropenia Lethargy Attention deficit hyperactivity disorder Autistic behavior Intellectual disability, moderate Blurred vision Visual field defect Autism Aciduria Increased CSF protein Hyporeflexia Delusions Visual hallucinations Intellectual disability, mild Dysesthesia Hypertension Normal pressure hydrocephalus Aldehyde oxidase deficiency Chorea Aphasia Decreased urinary urate Posterior fossa cyst Hallucinations Cognitive impairment Muscle weakness Cerebral visual impairment Truncal ataxia Pill-rolling tremor Recurrent singultus Episodic ketoacidosis Delirium Hyperglycinuria Personality changes Vertical supranuclear gaze palsy Ketoacidosis Restlessness Weak cry Language impairment Spastic diplegia Impulsivity Apathy Limb ataxia Absent urinary urothione Increased urinary thiosulfate Memory impairment Hypotelorism Cardiomyopathy Hypertrophic cardiomyopathy Respiratory tract infection Lactic acidosis Fusion of the left and right thalami Thick upper lip vermilion Sleep disturbance Long eyelashes Increased serum lactate Cerebral calcification Deeply set eye Epileptic encephalopathy Prominent nose Tetraplegia Leukodystrophy Short philtrum Muscular hypotonia of the trunk Profound global developmental delay Cerebral edema Decreased activity of the pyruvate dehydrogenase complex Respiratory insufficiency Long face Reduced xanthine dehydrogenase activity Hypouricemia Increased urinary sulfite Decreased urinary sulfate Xanthine nephrolithiasis Sulfite oxidase deficiency Xanthinuria Increased urinary hypoxanthine Molybdenum cofactor deficiency Increased urinary taurine Abnormal muscle tone Myoclonic spasms Thick vermilion border Lens luxation Axonal loss Loss of facial expression Ectopia lentis Hemiplegia Poor head control Extrapyramidal muscular rigidity Peripheral demyelination Hirano bodies Hemiparesis Abnormal cerebellum morphology Lymphadenopathy Developmental stagnation Peripheral dysmyelination Edema of the dorsum of feet Edema of the dorsum of hands Abnormality of upper lip Peripheral edema Infantile encephalopathy Porencephalic cyst Periventricular leukomalacia Edema of the lower limbs Short stature Progressive encephalopathy External ear malformation Epileptic spasms Palpebral edema Drowsiness Biparietal narrowing Abnormal palate morphology Gingival overgrowth Narrow forehead Undetectable visual evoked potentials Peripheral neuropathy Tapered finger Osteoporosis Delayed puberty Malabsorption Ophthalmoplegia Generalized tonic-clonic seizures Proteinuria Difficulty walking Hepatosplenomegaly Osteopenia Abdominal pain Delayed skeletal maturation Anemia Arrhythmia Kyphosis Splenomegaly Dystonia Congestive heart failure Diarrhea Dysphagia Fatigue Hepatomegaly Limitation of joint mobility Arthrogryposis multiplex congenita Elevated serum creatine phosphokinase Generalized muscle weakness Aplasia/Hypoplasia of the cerebellum Congenital muscular dystrophy Abnormality of the voice Optic nerve hypoplasia Aplasia/Hypoplasia of the corpus callosum Lissencephaly EMG abnormality Encephalocele High myopia Paralysis Hemiplegia/hemiparesis Retinal degeneration Congenital cataract Abnormality of the cerebral white matter Muscular dystrophy Neurological speech impairment Coloboma Confusion Glaucoma Unsteady gait Hypoplasia of the brainstem Cortical dysplasia Headache Cerebellar cyst Recurrent infections Cerebellar atrophy Gait ataxia Epicanthus Enlarged flash visual evoked potentials Short nasal bridge Hypoplasia of the retina Uncontrolled eye movements Hypoglycosylation of alpha-dystroglycan Type II lissencephaly Congenital glaucoma Cerebellar dysplasia Decreased light- and dark-adapted electroretinogram amplitude Buphthalmos Undetectable electroretinogram Hypoplasia of the pons Reduced visual acuity Meningocele Megalocornea Retinal atrophy Hypoplasia of the optic tract


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