Tremor, and Meningitis

Diseases related with Tremor and Meningitis

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


Top matches:

Low match UROCANIC ACIDURIA


Encephalopathy due to urocanase deficiency is an extremely rare histidine metabolism disorder characterized by urocanic aciduria and other variable manifestations including intellectual deficit and intermittent ataxia in the 4 cases reported to date.

UROCANIC ACIDURIA Is also known as encephalopathy due to urocanase deficiency

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Nystagmus
  • Dysarthria


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about UROCANIC ACIDURIA

Low match PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY


Purine nucleoside phosphorylase (PNP) deficiency is a disorder of purine metabolism characterized by progressive immunodeficiency leading to recurrent and opportunistic infections, autoimmunity and malignancy as well as neurologic manifestations.

PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY Is also known as pnp deficiency|pnpase deficiency|nucleoside phosphorylase deficiency

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY

Low match HARTNUP DISEASE


Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine).

HARTNUP DISEASE Is also known as aminoaciduria, hartnup type|hartnup disease|hartnup disorder

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about HARTNUP DISEASE

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Other less relevant matches:

Low match HYPEREKPLEXIA 2; HKPX2


Related symptoms:

  • Seizures
  • Spasticity
  • Motor delay
  • Hyperreflexia
  • Myopia


SOURCES: OMIM MENDELIAN

More info about HYPEREKPLEXIA 2; HKPX2

Low match TMEM70-RELATED MITOCHONDRIAL ENCEPHALO-CARDIO-MYOPATHY


Mitochondrial encephalo-cardio-myopathy due to TMEM70 mutation is characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria.

TMEM70-RELATED MITOCHONDRIAL ENCEPHALO-CARDIO-MYOPATHY Is also known as encephalocardiomyopathy, mitochondrial, neonatal, due to atp synthase deficiency|mitochondrial encephalo-cardio-myopathy due to f1fo atpase deficiency|mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex v defici

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about TMEM70-RELATED MITOCHONDRIAL ENCEPHALO-CARDIO-MYOPATHY

Low match GLUTARYL-COA DEHYDROGENASE DEFICIENCY


Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder.

GLUTARYL-COA DEHYDROGENASE DEFICIENCY Is also known as ga i|glutaric aciduria i|gcdhd|ga1|glutaryl-coenzyme a dehydrogenase deficiency|glutaric aciduria type 1|glutaric acidemia type 1|glutaryl-coa dehydrogenase deficiency

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about GLUTARYL-COA DEHYDROGENASE DEFICIENCY

Low match ALEXANDER DISEASE; ALXDRD


In decreasing order of frequency, 3 forms of Alexander disease are recognized, based on age of onset: infantile, juvenile, and adult. Younger patients typically present with seizures, megalencephaly, developmental delay, and spasticity. In older patients, bulbar or pseudobulbar symptoms predominate, frequently accompanied by spasticity. The disease is progressive, with most patients dying within 10 years of onset. Imaging studies of the brain typically show cerebral white matter abnormalities, preferentially affecting the frontal region (Gorospe et al., 2002). All 3 forms have been shown to be caused by mutations in the GFAP gene.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALEXANDER DISEASE; ALXDRD

Low match GM1-GANGLIOSIDOSIS, TYPE I


GM1-Gangliosidosis is an autosomal recessive lysosomal storage disease characterized by accumulation of ganglioside substrates in lysosomes. Clinically, patients show variable degrees of neurodegeneration and skeletal abnormalities. There are 3 main clinical variants categorized by severity and variable residual beta-galactosidase activity. Type I, or infantile form, shows rapid psychomotor deterioration beginning within 6 months of birth, generalized central nervous system involvement, hepatosplenomegaly, facial dysmorphism, macular cherry-red spots, skeletal dysplasia, and early death. Type II, or late-infantile/juvenile form (OMIM ), has onset between 7 months and 3 years, shows generalized central nervous system involvement with psychomotor deterioration, seizures, localized skeletal involvement, and survival into childhood. Hepatosplenomegaly and cherry-red spots are usually not present. Type III, or adult/chronic form (OMIM ), shows onset from 3 to 30 years and is characterized by localized skeletal involvement and localized central nervous system involvement, such as dystonia or gait or speech disturbance. There is an inverse correlation between disease severity and residual enzyme activity (Suzuki et al., 2001).See also Morquio B disease (OMIM ), an allelic disorder with skeletal anomalies and no neurologic involvement.The GM2-gangliosidoses include Tay-Sachs disease (OMIM ) and Sandhoff disease (OMIM ).

GM1-GANGLIOSIDOSIS, TYPE I Is also known as gangliosidosis, generalized gm1, type 1|gangliosidosis, generalized gm1, type i|glb1 deficiency|gangliosidosis, generalized gm1, infantile form|beta-galactosidase-1 deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about GM1-GANGLIOSIDOSIS, TYPE I

Low match EPILEPSY, FAMILIAL ADULT MYOCLONIC, 6; FAME6


EPILEPSY, FAMILIAL ADULT MYOCLONIC, 6; FAME6 Is also known as cortical myoclonic tremor with epilepsy, familial, 6|benign adult familial myoclonic epilepsy 6|fcmte6|bafme6

Related symptoms:

  • Seizures
  • Tremor


SOURCES: OMIM MENDELIAN

More info about EPILEPSY, FAMILIAL ADULT MYOCLONIC, 6; FAME6

Low match IMMUNODEFICIENCY 44; IMD44


Immunodeficiency-44 is an autosomal recessive primary immunodeficiency characterized by increased susceptibility to viral infections and adverse multisystemic reaction to vaccination in some patients. Affected individuals appear to have defects in mitochondrial fission and fusion (summary by Shahni et al., 2015).

Related symptoms:

  • Seizures
  • Spasticity
  • Visual impairment
  • Fever
  • Immunodeficiency


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY 44; IMD44

Top 5 symptoms//phenotypes associated to Tremor and Meningitis

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Spasticity Common - Between 50% and 80% cases
Encephalitis Common - Between 50% and 80% cases
Muscular hypotonia Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Tremor and Meningitis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Global developmental delay Generalized hypotonia Motor delay Hyperreflexia Aciduria Nystagmus Failure to thrive Fever Cognitive impairment Gait disturbance Acidosis Encephalopathy Short stature Dementia Developmental regression Cardiomyopathy Hepatomegaly Leukoencephalopathy Abnormal facial shape Dysarthria

Rare Symptoms - Less than 30% cases


Gastroesophageal reflux Kyphosis Short neck Frontal bossing Muscle weakness EEG abnormality Scoliosis Neurological speech impairment Migraine Headache Hypertonia Hydrocephalus Gait ataxia Gliosis Ptosis Vertigo Weight loss Camptodactyly of finger Congestive heart failure Exaggerated startle response Hypertension Myoclonus Chorea Glabellar reflex Respiratory insufficiency Long philtrum Metabolic acidosis Inguinal hernia Respiratory failure Cerebral cortical atrophy Emotional lability Hyperlordosis Hypertrophic cardiomyopathy Diplopia Strabismus Depressivity Abnormality of movement Feeding difficulties Abnormality of the retinal vasculature Growth delay Generalized dystonia Tetraplegia Dystonia Vomiting Abnormal pyramidal sign Abnormality of eye movement Spastic diplegia Macrocephaly Dysphagia Immunodeficiency Abnormality of the cerebral white matter Mood changes Hyperhidrosis Splenomegaly Cerebral ischemia Amenorrhea Ketonuria Clonus Cerebral calcification Peripheral demyelination Nausea and vomiting Joint dislocation Exercise intolerance Opisthotonus Sudden cardiac death Malignant hyperthermia Bulbar palsy Sleep disturbance Hypotension Dysmetria Hemiplegia Cough Infantile encephalopathy Ketonemia Hyperkinesis Cerebral palsy Symmetrical progressive peripheral demyelination Macrocephaly at birth Glutaric acidemia Subdural hemorrhage Glutaric aciduria Retinal hemorrhage Intracranial hemorrhage Acute encephalopathy Facial palsy High palate Fasting hypoglycemia Hyporeflexia Decreased plasma carnitine Constipation Agenesis of corpus callosum Diabetes mellitus Dilation of lateral ventricles Hypothyroidism Osteopenia Malnutrition Megalencephaly Leukodystrophy Hypertrichosis Bundle branch block Abnormality of the urinary system Generalized hirsutism Gingival overgrowth Abnormality of epiphysis morphology Abnormal form of the vertebral bodies Abnormality of the metaphysis Depressed nasal ridge Beaking of vertebral bodies Cardiomegaly Abnormality of the skin Macroglossia Broad nasal tip Abdominal distention Neurodegeneration Dilated cardiomyopathy Abnormal heart valve morphology Dysostosis multiplex Joint stiffness Cerebral degeneration Stomatitis Abnormality of mitochondrial metabolism Shock Cerebral visual impairment Visual impairment Abnormality of ganglioside metabolism Decreased beta-galactosidase activity Thickened ribs Aplasia/Hypoplasia of the abdominal wall musculature Abnormality of the scrotum Angiokeratoma corporis diffusum Cherry red spot of the macula Rough bone trabeculation Hypoplastic vertebral bodies Vacuolated lymphocytes Psychomotor deterioration Abnormal diaphysis morphology Corneal opacity Hepatosplenomegaly Muscle stiffness Muscle fibrillation Bulbar signs Hypothermia Choreoathetosis Poor coordination Increased CSF protein Drowsiness Atrophy/Degeneration affecting the brainstem Progressive spasticity Hypersomnia Bowel incontinence Dysphasia Oral-pharyngeal dysphagia Self-injurious behavior Precocious puberty Dysphonia Sleep apnea Abnormal autonomic nervous system physiology Aqueductal stenosis Large face Arthralgia Abnormality of the skeletal system Coarse facial features Skeletal dysplasia Macrotia Mandibular prognathia Severe short stature Recurrent respiratory infections Blindness Optic atrophy Pseudobulbar signs Skeletal muscle atrophy Depressed nasal bridge Hypertelorism Diffuse demyelination of the cerebral white matter Microcoria Hyperpigmented nevi Recurrent singultus Progressive macrocephaly Large fontanelles Hyperalaninemia Abnormality of extrapyramidal motor function Unsteady gait Autoimmune neutropenia Abnormal T cell morphology Recurrent opportunistic infections Cerebral vasculitis Brain abscess Lymph node hypoplasia Abnormality of B cell physiology Diarrhea Photophobia Anxiety Abnormality of the eye Skin rash Malabsorption Confusion Cirrhosis Hypouricemia Hepatic steatosis Abnormal blistering of the skin Psychosis Cutaneous photosensitivity Inflammatory abnormality of the skin Chronic diarrhea Hallucinations Aminoaciduria Hypopigmented skin patches Abnormality of vision Insomnia Irregular hyperpigmentation Delusions Gingivitis Pure red cell aplasia Impaired T cell function Episodic ataxia Behavioral abnormality Intellectual disability, severe Recurrent infections Aggressive behavior Broad-based gait Truncal ataxia Intellectual disability, progressive Hyperactive deep tendon reflexes Blue irides Fair hair Action tremor Gaze-evoked horizontal nystagmus Abnormality of histidine metabolism Urocanic aciduria Delayed speech and language development Babinski sign Recurrent viral infections Pneumonia Lymphoma Otitis media Spastic tetraplegia Tetraparesis Recurrent urinary tract infections Sinusitis Lymphopenia Recurrent bacterial infections Spastic tetraparesis Recurrent upper respiratory tract infections Autoimmune hemolytic anemia Autoimmune thrombocytopenia Recurrent lower respiratory tract infections Bruxism Methylmalonic aciduria Dehydration Myopathy Oligohydramnios Interphalangeal joint contracture of finger Pulmonary arterial hypertension Intention tremor Microretrognathia Aplasia/Hypoplasia of the corpus callosum Hyperammonemia Flat occiput Abnormal aortic valve morphology Moderate global developmental delay 3-Methylglutaconic aciduria Gastroparesis Abnormal pulmonary valve morphology Edema Dilatation Premature birth Prominent forehead Hypoglycemia Rigidity Feeding difficulties in infancy Irritability Respiratory tract infection Paralysis Stroke Inability to walk Dyskinesia Coma Abnormal cerebellum morphology Delayed myelination Neuronal loss in central nervous system Increased serum lactate Flat face Abnormal urinary color Cryptorchidism Glossitis Neural tube defect Hyperphenylalaninemia Grasp reflex Neutral hyperaminoaciduria Myopia Hernia Hyperactivity Astigmatism Esotropia Hiatus hernia Microcephaly Cataract Low-set ears Lactic acidosis Umbilical hernia Small for gestational age Short philtrum Wide mouth Abnormality of the kidney Intellectual disability, moderate Neonatal hypotonia Retrognathia Flexion contracture Arrhythmia Hypospadias Cerebellar atrophy Anteverted nares Intrauterine growth retardation Wide nasal bridge Opsoclonus



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Autoimmunity and Dysphagia, related diseases and genetic alterations Dysarthria and Cough, related diseases and genetic alterations

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