Fever, and Muscular hypotonia of the trunk

Diseases related with Fever and Muscular hypotonia of the trunk

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

Top matches:

Tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) comprises a genetically heterogeneous group of progressive neurologic disorders caused by autosomal recessive mutations in the genes encoding enzymes involved in the synthesis or regeneration of BH4. BH4 is a cofactor for phenylalanine hydroxylase (PAH ), tyrosine hydroxylase (TH ) and tryptophan hydroxylase (TPH1 ), the latter 2 of which are involved in neurotransmitter synthesis. The BH4-deficient HPAs are characterized phenotypically by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits (Dudesek et al., 2001).HPABH4A, caused by mutations in the PTS gene, represents the most common cause of BH4-deficient hyperphenylalaninemia (Dudesek et al., 2001). Other forms of BH4-deficient HPA include HPABH4B (OMIM ), caused by mutation in the GCH1 gene (OMIM ), HPABH4C (OMIM ), caused by mutation in the QDPR gene (OMIM ), and HPABH4D (OMIM ), caused by mutation in the PCBD1 gene (OMIM ). Niederwieser et al. (1982) noted that about 1 to 3% of patients with hyperphenylalaninemia have one of these BH4-deficient forms. These disorders are clinically and genetically distinct from classic phenylketonuria (PKU ), caused by mutation in the PAH gene.Two additional disorders associated with BH4 deficiency and neurologic symptoms do not have overt hyperphenylalaninemia as a feature: dopa-responsive dystonia (OMIM ), caused by mutation in the SPR gene (OMIM ), and autosomal dominant dopa-responsive dystonia (DYT5 ), caused by mutation in the GCH1 gene. Patients with these disorders may develop hyperphenylalaninemia when stressed.

HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A; HPABH4A Is also known as hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to pts deficiency|6-pyruvoyl-tetrahydropterin synthase deficiency|pts deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A; HPABH4A

HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B; HPABH4B Is also known as gtp cyclohydrolase i deficiency|hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to gtp cyclohydrolase i deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B; HPABH4B

Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD) to progressive infantile encephalopathy.

AUTOSOMAL RECESSIVE DOPA-RESPONSIVE DYSTONIA Is also known as tyrosine hydroxylase-deficient dopa-responsive dystonia|dyt5b|dopa-responsive dystonia, autosomal recessive|tyrosine hydroxylase deficiency|dystonia, dopa-responsive, autosomal recessive|parkinsonism, infantile, autosomal recessive|autosomal recessive seg

Related symptoms:

  • Generalized hypotonia
  • Ataxia
  • Ptosis
  • Feeding difficulties
  • Delayed speech and language development


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE DOPA-RESPONSIVE DYSTONIA

Other less relevant matches:

Aicardi-Goutieres syndrome is an autosomal recessive disorder characterized by onset of encephalopathy in the first year of life following normal early development. Affected infants typically show extreme irritability, intermittent unexplained fever, chilblains, progressive microcephaly, spasticity, dystonia, and profound psychomotor retardation. Laboratory studies show lymphocytosis and raised titers of alpha-interferon in the cerebrospinal fluid. Brain imaging may show white matter abnormalities, intracerebral calcifications, and cerebral atrophy. Many patients die in childhood (summary by Vogt et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of Aicardi-Goutieres syndrome, see AGS1 (OMIM ).

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 3; AGS3

Thiamine metabolism dysfunction syndrome-2 is an autosomal recessive metabolic disorder characterized by episodic encephalopathy, often triggered by febrile illness, presenting as confusion, seizures, external ophthalmoplegia, dysphagia, and sometimes coma and death. Administration of high doses of biotin, and sometimes thiamine, during these crises results in partial or complete improvement within days. If untreated, encephalopathies can result in permanent dystonia. Brain imaging may show characteristic bilateral lesions of the basal ganglia. It is not known why biotin administration results in clinical improvement, as the molecular basis of the disorder is mutation in a gene encoding a thiamine transporter. However, biotin may increase the gene expression of SLC19A3 (summary by Debs et al., 2010).For a discussion of genetic heterogeneity of disorders due to thiamine metabolism dysfunction, see THMD1 (OMIM ).

BIOTIN-THIAMINE-RESPONSIVE BASAL GANGLIA DISEASE Is also known as btbgd|basal ganglia disease, biotin-responsive|biotin-responsive basal ganglia disease|bbgd|encephalopathy, thiamine-responsive

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about BIOTIN-THIAMINE-RESPONSIVE BASAL GANGLIA DISEASE

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

High match COG4-CDG

COG4-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia.

COG4-CDG Is also known as carbohydrate deficient glycoprotein syndrome type iij|cdg-iij|cdg syndrome type iij|cdg2j|congenital disorder of glycosylation type iij|congenital disorder of glycosylation type 2j|cdgiij|cdg iij

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COG4-CDG

UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY Is also known as undetermined eoee

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY

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

Top 5 symptoms//phenotypes associated to Fever and Muscular hypotonia of the trunk

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

Other less frequent symptoms

Patients with Fever and Muscular hypotonia of the trunk. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Hyperreflexia

Uncommon Symptoms - Between 30% and 50% cases

Irritability

Common Symptoms - More than 50% cases

Hypertonia

Uncommon Symptoms - Between 30% and 50% cases

Encephalopathy

Common Symptoms - More than 50% cases

Nystagmus

Uncommon Symptoms - Between 30% and 50% cases

Rigidity

Common Symptoms - More than 50% cases

Ataxia

Uncommon Symptoms - Between 30% and 50% cases

Tremor Spasticity Feeding difficulties Intellectual disability Cerebral atrophy Opisthotonus Hypoplasia of the corpus callosum Babinski sign Motor delay Absent speech Dysarthria Dysphagia Choreoathetosis Leukodystrophy Involuntary movements Gait ataxia Visual impairment Ptosis Delayed speech and language development Hypokinesia Bradykinesia Excessive salivation Episodic fever Progressive neurologic deterioration Abnormality of extrapyramidal motor function Parkinsonism

Rare Symptoms - Less than 30% cases

Hepatosplenomegaly Abnormality of the cerebral white matter Elevated hepatic transaminase Intellectual disability, mild Thrombocytopenia Agitation Growth delay Failure to thrive Recurrent infections Respiratory failure Tetraparesis Abnormal pyramidal sign Status epilepticus Tetraplegia Paraparesis Focal impaired awareness seizure Abnormality of mitochondrial metabolism Cognitive impairment Cyanosis High palate Optic atrophy Cerebellar atrophy Oral-pharyngeal dysphagia Spastic tetraplegia Dysmetria Loss of speech Respiratory distress Limb hypertonia Poor suck Intellectual disability, progressive Hyperphenylalaninemia Postural instability Abnormality of the nervous system Gait disturbance Constipation Hyperhidrosis Hyperactivity Lethargy Severe muscular hypotonia Drooling Limb dystonia Abnormality of eye movement Oculogyric crisis Lactic acidosis Severe lactic acidosis Small for gestational age Primitive reflex Abnormal facial shape Hepatomegaly Diarrhea Splenomegaly Recurrent respiratory infections Pendular nystagmus Titubation Respiratory tract infection Cirrhosis Hepatic failure Sepsis Sloping forehead Chronic diarrhea Truncal titubation Broad face Hypoplasia of the brainstem Broad-based gait Apnea Pallor Thin vermilion border Flat face Abnormal cerebellum morphology Frontoparietal polymicrogyria Clonus Delayed ability to walk Horizontal nystagmus Finger clinodactyly Tented upper lip vermilion Diffuse leukoencephalopathy Optic nerve hypoplasia Psychomotor deterioration Ankle clonus Hypercholesterolemia Shock Polymicrogyria Edema Hypodontia Epileptic encephalopathy Multifocal seizures Focal clonic seizures Intrauterine growth retardation Ventriculomegaly Myopathy Abnormal protein N-linked glycosylation Brain atrophy Acidosis Polyhydramnios Retrognathia Developmental regression Arthrogryposis multiplex congenita Metabolic acidosis Generalized tonic-clonic seizures Wide intermamillary distance Leukoencephalopathy Thick hair Recurrent upper respiratory tract infections Elevated alkaline phosphatase Failure to thrive in infancy Abnormality of the coagulation cascade Diffuse cerebral atrophy Spastic tetraparesis Cerebellar hypoplasia Intermittent diarrhea Fatal liver failure in infancy Generalized neonatal hypotonia Recurrent infection of the gastrointestinal tract Frontotemporal cerebral atrophy Neonatal sepsis Complex febrile seizures Type II transferrin isoform profile Abnormal protein O-linked glycosylation Brachycephaly Rotary nystagmus Clinodactyly of the 5th finger Respiratory insufficiency Progressive microcephaly Torticollis Muscle stiffness Poor head control Hemiplegia Lymphocytosis CSF lymphocytic pleiocytosis Facial palsy Delayed myelination Paralysis Abnormality of movement Ophthalmoplegia Confusion Inability to walk Neurodegeneration Coma Cerebral calcification Pruritus Generalized-onset seizure Central hypotonia Pes cavus Myoclonus Infantile encephalopathy Postural tremor Mask-like facies Brisk reflexes Lower limb hyperreflexia Progressive encephalopathy Severe global developmental delay Generalized dystonia Focal dystonia Night sweats Parkinsonism with favorable response to dopaminergic medication Decreased CSF homovanillic acid Impulsivity Obsessive-compulsive behavior Hyperkinesis Focal-onset seizure Abnormality of the eye Clinodactyly Spastic paraparesis Unsteady gait Falls Polyneuropathy Transient hyperphenylalaninemia Specific learning disability Frequent falls Lower limb spasticity CNS hypomyelination Poor speech Excessive daytime somnolence Toe walking Cerebellar vermis atrophy Motor deterioration Talipes equinovarus Cerebral hypomyelination Epicanthus Long philtrum Strabismus Attention deficit hyperactivity disorder External ophthalmoplegia Acute encephalopathy Mutism Bilateral ptosis Anxiety Atrophy/Degeneration affecting the brainstem Morphological abnormality of the pyramidal tract Abnormality of the basal ganglia Cogwheel rigidity Craniofacial dystonia Mental deterioration Focal motor seizures Short stature Hearing impairment Depressivity Behavioral abnormality Fatigue Muscular hypotonia Difficulty walking Progressive leukoencephalopathy


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