Fever, and Babinski sign

Diseases related with Fever and Babinski sign

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

Top matches:

This disease is characterised by progressive cerebellar ataxia with pyramidal and spinal cord dysfunction, associated with distinctive MRI anomalies and increased lactate in the abnormal white matter.

LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT-HIGH LACTATE SYNDROME Is also known as mitochondrial aspartyl-trna synthetase deficiency|leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome|lbsl

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT-HIGH LACTATE SYNDROME

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:

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

X-linked Charcot-Marie-Tooth disease type 1 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked dominant inheritance pattern and the childhood-onset (within the first decade in males) of progressive, distal, moderate to severe muscle weakness and atrophy in lower extremities and intrinsic hand muscles, pes cavus, bilateral foot drop, reduced or absent tendon reflexes, as well as mild to moderate sensory impairment in lower extremities. Females tend to have milder manifestations or may be asymptomatic. Sensorineural deafness and central nervous system involvement have also been reported.

X-LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 1 Is also known as cmt2, formerly|cmt1x|charcot-marie-tooth peroneal muscular atrophy, x-linked|cmtx1|cmtx|charcot-marie-tooth neuropathy, x-linked, 1|hereditary motor and sensory neuropathy, x-linked|hmsn, x-linked

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 1

Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterized by juvenile Parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment.

KUFOR-RAKEB SYNDROME Is also known as parkinson disease 9, autosomal recessive, juvenile-onset|park9|pallidopyramidal degeneration with supranuclear upgaze paresis and dementia|krppd

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about KUFOR-RAKEB SYNDROME

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

High match CADASIL

CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary cerebrovascular disorder characterized by mid-adult onset of recurrent subcortical ischemic stroke and cognitive impairment progressing to dementia in addition to migraines with aura and mood disturbances seen in about a third of patients.

CADASIL Is also known as dementia, hereditary multi-infarct type|cadasil|cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy|casil|hereditary multi-infarct dementia

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about CADASIL

Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance.

CONGENITAL CATARACTS-FACIAL DYSMORPHISM-NEUROPATHY SYNDROME Is also known as ccfdn|cataract, congenital, with facial dysmorphism and neuropathy

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL CATARACTS-FACIAL DYSMORPHISM-NEUROPATHY SYNDROME

Top 5 symptoms//phenotypes associated to Fever and Babinski sign

Symptoms // Phenotype % cases
Ataxia Very Common - Between 80% and 100% cases
Tremor Common - Between 50% and 80% cases
Dysarthria Common - Between 50% and 80% cases
Motor delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Fever and Babinski sign. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Hyperreflexia

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability

Common Symptoms - More than 50% cases

Dysphagia

Uncommon Symptoms - Between 30% and 50% cases

Rigidity

Common Symptoms - More than 50% cases

Nystagmus

Uncommon Symptoms - Between 30% and 50% cases

Spasticity Peripheral neuropathy Cerebral atrophy Gait disturbance Cognitive impairment Global developmental delay Muscle weakness Paraparesis Hypertonia Generalized hypotonia Dystonia Muscular hypotonia of the trunk Dysmetria Abnormality of extrapyramidal motor function Intellectual disability, mild Hearing impairment Delayed speech and language development Mental deterioration Encephalopathy Bradykinesia Sensory neuropathy Peripheral demyelination Lethargy Irritability Tetraplegia Parkinsonism Kyphosis Opisthotonus Hypokinesia Oculogyric crisis Difficulty walking Pes cavus Lower limb hyperreflexia Tetraparesis Neurodegeneration Confusion Abnormality of the eye Abnormality of eye movement Intention tremor Ptosis Gait ataxia Progressive neurologic deterioration Cerebral cortical atrophy Pseudobulbar paralysis Abnormal pyramidal sign Feeding difficulties

Rare Symptoms - Less than 30% cases

Short stature Decreased motor nerve conduction velocity Urinary incontinence Psychosis Optic atrophy Hypoglycemia Visual impairment Apathy Vacuolated lymphocytes Brain atrophy Cogwheel rigidity Hypertension Cranial nerve paralysis Developmental regression Coma Abnormal facial shape Inability to walk Pain Cerebellar atrophy Attention deficit hyperactivity disorder Axonal loss CNS hypomyelination Impaired pain sensation Distal sensory impairment Lower limb muscle weakness Abnormality of the foot Abnormality of peripheral nerve conduction Sensorineural hearing impairment Scoliosis Toe walking Spastic paraparesis Chorea Frequent falls Axonal degeneration Dementia Spastic tetraplegia Aphasia Facial palsy Falls Generalized muscle weakness Polyneuropathy Loss of speech Abnormality of the nervous system Depressivity Talipes equinovarus Excessive salivation Limb dystonia Drooling Torticollis Involuntary movements Choreoathetosis Postural instability Hyperactivity Hyperhidrosis Constipation Behavioral abnormality Myoclonus Fatigue Strabismus Leukoencephalopathy Truncal ataxia Clumsiness Peripheral axonal neuropathy Unsteady gait Poor speech Abnormality of the cerebral white matter Hyporeflexia Skeletal muscle atrophy Flexion contracture Respiratory distress Ventriculomegaly Postural tremor Mask-like facies Brisk reflexes Parkinsonism with favorable response to dopaminergic medication Decreased testicular size Headache Visual loss Elevated serum creatine phosphokinase EEG abnormality Microcornea Proximal muscle weakness Acute rhabdomyolysis Kyphoscoliosis Hypogonadism Stroke Pallor Myopathy Generalized tonic-clonic seizures Vertigo Upper limb postural tremor Malar prominence Nausea Migraine Abnormality of the skin Memory impairment Recurrent myoglobinuria Amenorrhea Vomiting Sea-blue histiocytosis Decreased beta-galactosidase activity Platyspondyly Congenital cataract Myalgia Anteverted nares Blindness Renal insufficiency Posteriorly rotated ears Prominent forehead Hepatosplenomegaly Paresthesia Abnormality of the liver Generalized myoclonic seizures Hemiparesis Abnormality of the face Coxa valga Developmental stagnation Small hand Abnormality of the spleen Visceromegaly Psychomotor deterioration Loss of ability to walk Decerebrate rigidity Progressive psychomotor deterioration Lumbar kyphosis Myocardial infarction Spastic tetraparesis Recurrent pneumonia Myoglobinuria Migraine with aura Genu recurvatum Primary amenorrhea Scintillating scotoma Abnormality of nervous system morphology Perseveration Mania Subcutaneous hemorrhage Malignant hyperthermia Amaurosis fugax Rhabdomyolysis Cerebral ischemia Diffuse leukoencephalopathy Focal sensory seizure Secondary amenorrhea Nonarteritic anterior ischemic optic neuropathy Retinal arteriolar tortuosity Hypogonadotrophic hypogonadism Hypergonadotropic hypogonadism Recurrent subcortical infarcts Long eyelashes Split hand Subcortical dementia Stroke-like episode Motor axonal neuropathy Abulia Intrauterine growth retardation Atherosclerosis Shock Abnormal electroretinogram Hemiplegia Personality changes Abnormality of the cervical spine Osteoporosis Cerebral hemorrhage Microphthalmia Abnormality of the dentition Abnormality of the skeletal system Scotoma Subdural hemorrhage Bulbar palsy Camptodactyly of finger Cataract Optic neuropathy Abnormality of visual evoked potentials Motor polyneuropathy Decreased serum estradiol Transient ischemic attack Interphalangeal joint contracture of finger Micrognathia Varicose veins Amyloidosis Pathologic fracture Epicanthus Craniofacial dystonia Generalized-onset seizure Status epilepticus External ophthalmoplegia Mutism Bilateral ptosis Focal impaired awareness seizure Abnormality of mitochondrial metabolism Atrophy/Degeneration affecting the brainstem Morphological abnormality of the pyramidal tract Abnormality of the basal ganglia Acute encephalopathy Focal motor seizures Ophthalmoplegia Microcephaly Absent speech Specific learning disability Lower limb spasticity Leukodystrophy Oral-pharyngeal dysphagia Cerebellar vermis atrophy Motor deterioration Rotary nystagmus Cerebral hypomyelination Areflexia Focal-onset seizure Paralysis Limb muscle weakness Obsessive-compulsive behavior Progressive cerebellar ataxia Slurred speech Episodic ataxia Sensory ataxia Muscular hypotonia Anxiety Abnormality of movement Intellectual disability, progressive Severe muscular hypotonia Hyperkinesis Poor suck Impulsivity Respiratory failure Episodic fever Limb hypertonia Infantile encephalopathy Hyperphenylalaninemia Central hypotonia Progressive encephalopathy Generalized dystonia Focal dystonia Night sweats Decreased CSF homovanillic acid Respiratory insufficiency Distal muscle weakness Distal amyotrophy Depressed nasal bridge Anarthria Pulmonary embolism Blepharospasm Abnormality of finger Slow saccadic eye movements Hypomimic face Visual hallucinations Diffuse cerebral atrophy Short attention span Supranuclear gaze palsy Hyposmia Upper motor neuron dysfunction Vertical supranuclear gaze palsy Global brain atrophy Hyperreflexia in upper limbs Psychotic episodes Leg muscle stiffness Stooped posture Abnormality of higher mental function Cerebellar cortical atrophy Difficulty in tongue movements Upgaze palsy Hyperactive patellar reflex Eyelid apraxia Lingual dystonia Bowel incontinence Akinesia Abnormal cerebellum morphology Excessive daytime somnolence Limb ataxia Sensorimotor neuropathy Incoordination Dysdiadochokinesis Language impairment Decreased number of peripheral myelinated nerve fibers Onion bulb formation Hyperventilation Upper limb undergrowth Hand tremor Distal lower limb amyotrophy Achilles tendon contracture Anosmia Spinocerebellar tract degeneration Absent Achilles reflex Abnormal nerve conduction velocity Peripheral axonal degeneration Distal upper limb amyotrophy Motor aphasia Aggressive behavior Spastic paraplegia Paraplegia Dyskinesia Hallucinations Peripheral hypomyelination


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