Fever, and Spastic tetraplegia

Diseases related with Fever and Spastic tetraplegia

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

Top matches:

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4; EIEE4

Familial acute necrotizing encephalopathy or ADANE is a potentially fatal neurological disease characterised by neuropathological lesions principally involving the brainstem, thalamus and putamen.

FAMILIAL ACUTE NECROTIZING ENCEPHALOPATHY Is also known as adane|recurrent acute necrotizing encephalopathy|ane|encephalopathy, acute necrotizing, susceptibility to

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL ACUTE NECROTIZING ENCEPHALOPATHY

Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) is characterized by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria.

HYPOMYELINATION WITH ATROPHY OF BASAL GANGLIA AND CEREBELLUM Is also known as leukodystrophy, hypomyelinating, with atrophy of the basal ganglia and cerebellum|habc|h-abc

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about HYPOMYELINATION WITH ATROPHY OF BASAL GANGLIA AND CEREBELLUM

Other less relevant matches:

Classic maple syrup urine disease (classic MSUD) is the most severe and probably common form of MSUD (see this term) characterized by a maple syrup odor in the cerumen at birth, poor feeding, lethargy and focal dystonia, followed by progressive encephalopathy and central respiratory failure if untreated.

CLASSIC MAPLE SYRUP URINE DISEASE Is also known as keto acid decarboxylase deficiency|classic branched-chain ketoaciduria|classic branched-chain alpha-ketoacid dehydrogenase deficiency|classic msud|bckd deficiency|classic bckd deficiency|branched-chain ketoaciduria|branched-chain alpha-keto acid dehydroge

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CLASSIC MAPLE SYRUP URINE DISEASE

Dihyropyrimidine dehydrogenase deficiency shows large phenotypic variability, ranging from no symptoms to a convulsive disorder with motor and mental retardation in homozygous patients. In addition, homozygous and heterozygous mutation carriers can develop severe toxicity after the administration of the antineoplastic drug 5-fluorouracil (5FU), which is also catabolized by the DPYD enzyme. This is an example of a pharmacogenetic disorder (Van Kuilenburg et al., 1999).Since there is no correlation between genotype and phenotype in DPD deficiency, it appears that the deficiency is a necessary, but not sufficient, prerequisite for the development of clinical abnormalities (Van Kuilenburg et al., 1999; Enns et al., 2004).

DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY Is also known as pyrimidinemia, familial|familial pyrimidinemia|dpyd deficiency|dpd deficiency|thymine-uraciluria, hereditary

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY

MMDS3 is an autosomal recessive severe neurodegenerative disorder characterized by loss of previously acquired developmental milestones in the first months or years of life. Some affected patients have normal development in early infancy before the onset of symptoms, whereas others show delays from birth. Features included loss of motor function, spasticity, pyramidal signs, loss of speech, and cognitive impairment. The disease course is highly variable: some patients die of respiratory failure early in childhood, whereas some survive but may be bedridden with a feeding tube. Less commonly, some patients may survive and have a stable course with motor deficits and mild or even absent cognitive impairment, although there may be fluctuating symptoms, often in response to infection. Other variable features include visual problems and seizures. Brain imaging shows diffuse leukodystrophy in the subcortical region, brainstem, cerebellum, and spinal cord. Laboratory studies tend to show increased lactate and CSF glycine, and decreased activity of mitochondrial complexes I and II, although these findings are also variable. There may be additional biochemical evidence of mitochondrial dysfunction (summary by Liu et al., 2018).For a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3; MMDS3

GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis (see this term) characterized by normal early development and psychomotor regression between seven months and three years of age.

GM1 GANGLIOSIDOSIS TYPE 2 Is also known as late-infantile gm1 gangliosidosis|gangliosidosis, generalized gm1, type ii|juvenile gm1 gangliosidosis|gangliosidosis, generalized gm1, type 2|gangliosidosis, generalized gm1, juvenile type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Ataxia
  • Muscle weakness
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about GM1 GANGLIOSIDOSIS TYPE 2

Aicardi-Goutieres syndrome is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon (IFNA1 ), and negative serologic investigations for common prenatal infections (Ali et al., 2006). AGS is phenotypically similar to in utero viral infection. Severe neurologic dysfunction becomes clinically apparent in infancy, and manifests as progressive microcephaly, spasticity, dystonic posturing, profound psychomotor retardation, and often death in early childhood. Outside the nervous system, thrombocytopenia, hepatosplenomegaly, and elevated hepatic transaminases along with intermittent fever may also erroneously suggest an infective process (Crow et al., 2006).In a review of AGS, Stephenson (2008) noted that an expanded phenotypic spectrum has been recognized and that most of the original criteria for diagnosis no longer apply: affected individuals may show later onset and may not have severe or progressive neurologic dysfunction, calcification of the basal ganglia, or CSF lymphocytosis. The appearance of chilblains is an important clinical sign for correct diagnosis. The most severe neonatal form of AGS is typically due to mutation in the TREX1 gene.Cree encephalitis was originally considered a separate disorder, but genetic evidence has shown that it is the same as AGS1. See also pseudo-TORCH syndrome (OMIM ), which shows phenotypic overlap and may in some cases represent AGS (Crow et al., 2000; Crow et al., 2003). AGS is distinct from the similarly named Aicardi syndrome (OMIM ), which is characterized by agenesis of the corpus callosum, spinal skeletal abnormalities, and chorioretinal abnormalities. Genetic Heterogeneity of Aicardi-Goutieres SyndromeSee also AGS2 (OMIM ), caused by mutation in the gene encoding subunit B of ribonuclease H2 (RNASEH2B ) on chromosome 13q; AGS3 (OMIM ), caused by mutation in the RNASEH2C gene (OMIM ) on chromosome 11q13.2; AGS4 (OMIM ), caused by mutation in the RNASEH2A gene (OMIM ) on chromosome 19p13.13; AGS5 (OMIM ), caused by mutation in the SAMHD1 gene (OMIM ) on chromosome 20; AGS6 (OMIM ), caused by mutation in the ADAR1 gene (OMIM ) on chromosome 1q21; and AGS7 (OMIM ), caused by mutation in the IFIH1 gene (OMIM ) on chromosome 2q24.

AICARDI-GOUTIERES SYNDROME 1; AGS1 Is also known as cree encephalitis|encephalopathy, familial infantile, with intracranial calcification and chronic cerebrospinal fluid lymphocytosis|ags|pseudotoxoplasmosis syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 1; AGS1

Neurodegeneration with brain iron accumulation-2A is an autosomal recessive neurodegenerative disease characterized by onset in the first 2 years of life; it is also referred to as infantile neuroaxonal dystrophy (INAD). Pathologic findings include axonal swelling and spheroid bodies in the central nervous system (review by Gregory et al., 2009).

NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A; NBIA2A Is also known as inad|neurodegeneration, pla2g6-associated|neuroaxonal dystrophy, infantile|seitelberger disease|inad1|plan

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A; NBIA2A

Low match BRODY MYOPATHY

Brody myopathy, a disorder of fast-twitch skeletal muscle function, is characterized by exercise-induced impairment of skeletal muscle relaxation, stiffening, and cramps, predominantly in the arms, legs, and eyelids (summary by Odermatt et al., 2000).

Related symptoms:

  • Pain
  • Spasticity
  • Flexion contracture
  • Fever
  • Myopathy


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about BRODY MYOPATHY

Top 5 symptoms//phenotypes associated to Fever and Spastic tetraplegia

Symptoms // Phenotype % cases
Tetraplegia Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Spasticity Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Fever and Spastic tetraplegia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Encephalopathy

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability

Common Symptoms - More than 50% cases

Ataxia

Uncommon Symptoms - Between 30% and 50% cases

Cerebral atrophy Nystagmus Optic atrophy Microcephaly Muscular hypotonia of the trunk Visual impairment Feeding difficulties Developmental regression Spastic paraparesis Abnormality of the cerebral white matter Ventriculomegaly Pneumonia Rigidity Strabismus Irritability Motor delay Cerebellar atrophy Hypertonia Dystonia Hyperactivity Muscular hypotonia Abnormality of extrapyramidal motor function Leukodystrophy Growth delay Paraparesis Opisthotonus Cerebral cortical atrophy Generalized myoclonic seizures Neurodegeneration

Rare Symptoms - Less than 30% cases

Vomiting Cerebral palsy Hepatitis Morphological abnormality of the pyramidal tract Lactic acidosis Autoamputation Diarrhea Acidosis Feeding difficulties in infancy Absent speech Weight loss Respiratory failure Hypertension Severe global developmental delay Flexion contracture Failure to thrive Hepatomegaly Unsteady gait Hepatosplenomegaly Psychomotor deterioration Loss of speech Episodic fever Leukoencephalopathy Prominent forehead Severe muscular hypotonia Tetraparesis Brain atrophy Thrombocytopenia Tremor Generalized muscle weakness Abnormal pyramidal sign Recurrent infections Myopathy Diffuse cerebral atrophy Hypoplasia of the corpus callosum Agenesis of corpus callosum Choreoathetosis Lethargy Pain Intellectual disability, profound Cognitive impairment Delayed speech and language development Cerebral edema Hyperreflexia Hearing impairment CNS hypomyelination Encephalitis Babinski sign Hallucinations Gliosis Cerebral hypomyelination Polyneuropathy Coma Gait disturbance Difficulty walking Mental deterioration Progressive psychomotor deterioration Loss of ability to walk Skin rash Elevated hepatic transaminase Glaucoma Abnormality of the spleen Visceromegaly Dilatation Epiphora Lumbar kyphosis Vacuolated lymphocytes Decerebrate rigidity Diabetes insipidus Splenomegaly Abnormality of the skeletal system Decreased beta-galactosidase activity Sea-blue histiocytosis Developmental stagnation Abnormality of the face Brisk reflexes Posteriorly rotated ears Depressed nasal bridge Epicanthus Anteverted nares Blindness Urinary retention Degeneration of the lateral corticospinal tracts Kyphosis Renal insufficiency Corpus callosum atrophy Coxa valga Lewy bodies Abnormality of the liver Platyspondyly Gangrene Abnormality of visual evoked potentials Clumsiness Peripheral demyelination Keratoconjunctivitis sicca Keratitis Hypothyroidism Poor suck Abnormal facial shape Cerebellar cortical atrophy Chilblains Chronic CSF lymphocytosis Deep white matter hypodensities Autoamputation of digits Muscle stiffness Muscle cramps Increased CSF interferon alpha Micrognathia Peripheral neuropathy CSF lymphocytic pleiocytosis Frontal bossing Myalgia Hypothalamic hypothyroidism Short nose Abnormality of metabolism/homeostasis Visual loss Cerebellar gliosis Areflexia Constipation Paralysis Parkinsonism Multiple gastric polyps Cerebral calcification Petechiae Myotonia Decreased nerve conduction velocity Sensorimotor neuropathy Dementia Postnatal microcephaly Progressive microcephaly Poor head control Systemic lupus erythematosus Spastic diplegia Congenital glaucoma Spinal deformities Prolonged neonatal jaundice Basal ganglia calcification Atrophy/Degeneration affecting the brainstem Neuronal loss in central nervous system Progressive encephalopathy Acrocyanosis EMG: chronic denervation signs Vegetative state Lymphocytosis CSF pleocytosis Progressive neurologic deterioration Iris coloboma Muscle weakness Oral-pharyngeal dysphagia Dysarthria Attention deficit hyperactivity disorder Poor speech Dysmetria Falls Specific learning disability Involuntary movements Frequent falls Lower limb spasticity Toe walking Acute necrotizing encephalopathy Cerebellar vermis atrophy Motor deterioration Rotary nystagmus Headache Depressivity Osteoporosis Hypoglycemia Anxiety Ophthalmoplegia Nausea and vomiting Short stature Polyneuritis Hepatic failure Infantile encephalopathy Intellectual disability, severe Spastic paraplegia Generalized tonic-clonic seizures Dyskinesia Epileptic encephalopathy Hypsarrhythmia Status epilepticus Epileptic spasms Generalized tonic seizures Impaired horizontal smooth pursuit Necrotizing encephalopathy EEG with burst suppression Pallor Cough Foot dorsiflexor weakness Severe vision loss Increased CSF protein Abnormal posturing Abducens palsy Acute encephalopathy Abnormal muscle tone Nausea Postural instability Progressive leukoencephalopathy Polymicrogyria Reduced dihydropyrimidine dehydrogenase activity Uraciluria High palate Intrauterine growth retardation Respiratory distress Edema Polyhydramnios Retrognathia Arthrogryposis multiplex congenita Metabolic acidosis Stomatitis Wide intermamillary distance Spastic tetraparesis Abnormality of mitochondrial metabolism Hypoplasia of the brainstem Agitation Pendular nystagmus Severe lactic acidosis Primitive reflex Diffuse leukoencephalopathy Frontoparietal polymicrogyria Recurrent aspiration pneumonia Aspiration pneumonia Otitis media Elevated plasma branched chain amino acids Pancreatitis Increased intracranial pressure Growth abnormality Impulsivity Ketosis Ketoacidosis Ketonuria Episodic ataxia Increased level of hippuric acid in urine Neoplasm Hypoventilation Microphthalmia Alopecia Autism Autistic behavior Coloboma Febrile seizures Aspiration Leukopenia Delayed gross motor development Breast carcinoma Myoglobinuria


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