Fever, and Spastic paraplegia

Diseases related with Fever and Spastic paraplegia

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


Top matches:

High match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4; EIEE4


Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

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

High match KUFOR-RAKEB SYNDROME


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

High match CHÉDIAK-HIGASHI SYNDROME


Chédiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described.

CHÉDIAK-HIGASHI SYNDROME Is also known as chÉdiak-higashi-steinbrink syndrome|chÉdiak-higashi disease

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CHÉDIAK-HIGASHI SYNDROME

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Other less relevant matches:

Medium match EWING SARCOMA


Ewing's sarcoma is a malignant small round cell bone tumor with strong metastatic potential.

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Fever
  • Weight loss


SOURCES: OMIM ORPHANET MENDELIAN

More info about EWING SARCOMA

Medium match VASCULITIS DUE TO ADA2 DEFICIENCY


Vasculitis due to ADA2 deficiency is a rare, genetic, systemic and rheumatologic disease due to adenosine deaminase-2 inactivating mutations, combining variable features of autoinflammation, vasculitis, and a mild immunodeficiency. Variable clinical presentation includes chronic or recurrent systemic inflammation with fever, livedo reticularis or racemosa, early-onset ischemic or hemorrhagic strokes, peripheral neuropathy, abdominal pain, hepatosplenomegaly, portal hypertension, cutaneous polyarteritis nodosa, variable cytopenia and immunoglobulin deficiency.

VASCULITIS DUE TO ADA2 DEFICIENCY Is also known as ada2 deficiency|vasculitis due to dada2

Related symptoms:

  • Ataxia
  • Pain
  • Anemia
  • Hypertension
  • Peripheral neuropathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about VASCULITIS DUE TO ADA2 DEFICIENCY

Medium match ATTRV30M AMYLOIDOSIS


Familial amyloid polyneuropathy (FAP) or transthyretin (TTR) amyloid polyneuropathy is a progressive sensorimotor and autonomic neuropathy of adulthood onset. Weight loss and cardiac involvement are frequent; ocular or renal complications may also occur.

ATTRV30M AMYLOIDOSIS Is also known as familial amyloid polyneuropathy type i|ttr amyloid neuropathy|attrv30m-related amyloidosis|hereditary amyloidosis, transthyretin-related|transthyretin amyloid polyneuropathy|familial amyloid polyneuropathy, portuguese-swedish-japanese type|fap|amyloid pol

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATTRV30M AMYLOIDOSIS

Medium 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

Medium match HYPOMYELINATION WITH ATROPHY OF BASAL GANGLIA AND CEREBELLUM


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

Medium match LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM


Vanishing white matter leukodystrophy is an autosomal recessive neurologic disorder characterized by variable neurologic features, including progressive cerebellar ataxia, spasticity, and cognitive impairment associated with white matter lesions on brain imaging. The age at onset can range from early infancy to adulthood. Rapid neurologic deterioration can occur following minor head trauma. Female mutation carriers may develop ovarian failure, manifest as primary amenorrhea or as secondary amenorrhea lasting more than 6 months, associated with elevated gonadotropin levels at age less than 40 years (summary by Van der Knaap et al., 1998 and Schiffmann et al., 1997).

LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM Is also known as cach|cle|childhood ataxia with central nervous system hypomyelinization|cree leukoencephalopathy|vanishing white matter leukodystrophy

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Muscle weakness
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM

Medium match GM1 GANGLIOSIDOSIS TYPE 2


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

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

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Spasticity Common - Between 50% and 80% cases
Paraparesis Common - Between 50% and 80% cases
Pain Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Paraplegia Tremor Peripheral neuropathy Spastic paraparesis Nystagmus Dysarthria Gait disturbance Neurodegeneration Intellectual disability Developmental regression Difficulty walking Rigidity Cerebral atrophy Mental deterioration Generalized hypotonia Global developmental delay Optic atrophy Babinski sign Cerebral hemorrhage Dementia Hepatosplenomegaly Hyperreflexia Cognitive impairment Peripheral demyelination Cerebral hypomyelination Abnormality of extrapyramidal motor function Muscle weakness Hemiparesis Anemia Tetraplegia Visual impairment CNS hypomyelination Spastic tetraplegia

Rare Symptoms - Less than 30% cases


Leukodystrophy Lymphadenopathy Oculogyric crisis Paresthesia Immunodeficiency Muscle stiffness Leukemia Neoplasm Unsteady gait Hepatomegaly Splenomegaly Motor delay Hyporeflexia Cerebellar atrophy Areflexia Delayed speech and language development Peripheral axonal neuropathy Coma Falls Leukocytosis Vasculitis Abnormality of the liver Arthritis Myalgia Headache Hypertension Hearing impairment Vomiting Diarrhea Renal insufficiency Lymphoma Weight loss Polyneuropathy Blindness Gliosis Axonal degeneration Leukopenia Foot dorsiflexor weakness Psychomotor deterioration Pancytopenia Vacuolated lymphocytes Aphasia Hallucinations Encephalopathy Urinary incontinence Brain atrophy Parkinsonism Generalized muscle weakness Generalized myoclonic seizures Bradykinesia Lethargy Cerebral cortical atrophy Dyskinesia Absent speech Dystonia Abnormality of the eye Hypotension Increased CSF protein Kyphosis Malabsorption Nephropathy Clumsiness Platyspondyly Prominent forehead Syringomyelia Amyloidosis Migraine Bilateral sensorineural hearing impairment Neuronal loss in central nervous system Malnutrition Decreased number of peripheral myelinated nerve fibers Cardiomegaly Abnormal autonomic nervous system physiology Posteriorly rotated ears Orthostatic hypotension Atrioventricular block Cachexia Rheumatoid arthritis Impotence Leukoencephalopathy Constipation Abnormality of the face Lupus anticoagulant Elevated erythrocyte sedimentation rate Thrombocytosis Sea-blue histiocytosis Lumbar kyphosis Raynaud phenomenon Hypercoagulability Immune dysregulation Granulocytopenia Erythema nodosum Antiphospholipid antibody positivity Panniculitis Pure red cell aplasia Progressive psychomotor deterioration Decerebrate rigidity Retinal arterial occlusion Facial palsy Central retinal artery occlusion Sensorineural hearing impairment Loss of ability to walk Hydrocephalus Cardiomyopathy Visceromegaly Abnormality of the spleen Developmental stagnation Congestive heart failure Loss of speech Arrhythmia Brisk reflexes Coxa valga Multiple myeloma Restrictive cardiomyopathy Myelopathy Stroke-like episode Opisthotonus Poor speech Progressive encephalopathy Combined immunodeficiency Secondary amenorrhea Specific learning disability Choreoathetosis Involuntary movements Frequent falls Lower limb spasticity Emotional lability Oral-pharyngeal dysphagia Toe walking Personality changes Cerebellar vermis atrophy Delusions Motor deterioration Rotary nystagmus Premature ovarian insufficiency Muscular hypotonia Macrocephaly Encephalitis Distal muscle weakness Abnormality of the cerebral white matter Progressive cerebellar ataxia Memory impairment Amenorrhea Primary amenorrhea Progressive neurologic deterioration Hyperventilation CNS demyelination Constrictive median neuropathy Myopathy Anteverted nares Ventriculomegaly Spastic gait Abnormal renal physiology Sensory ataxia Urinary retention Orthostatic hypotension due to autonomic dysfunction Epicanthus Vitreous floaters Depressed nasal bridge Cardiac amyloidosis Amyloid deposition in the vitreous humor Flexion contracture Muscle cramps Attention deficit hyperactivity disorder Feeding difficulties Abnormal facial shape Decreased circulating progesterone Cessation of head growth Myotonia Spastic hemiparesis Myoglobinuria Short stature Microcephaly Rapid neurologic deterioration Diffuse leukoencephalopathy Primary gonadal insufficiency Hyperactivity Muscular hypotonia of the trunk Dysmetria Abnormality of multiple cell lineages in the bone marrow Agitation Diffuse cerebral atrophy Cogwheel rigidity Parkinsonism with favorable response to dopaminergic medication Upper motor neuron dysfunction Hyposmia Supranuclear gaze palsy Short attention span Visual hallucinations Anarthria Hypomimic face Slow saccadic eye movements Abnormality of finger Blepharospasm Pulmonary embolism Lower limb hyperreflexia Pseudobulbar paralysis Vertical supranuclear gaze palsy Bowel incontinence Hyperactive patellar reflex Atrial septal defect Edema Skeletal muscle atrophy Strabismus Lingual dystonia Eyelid apraxia Upgaze palsy Hyperreflexia in upper limbs Difficulty in tongue movements Cerebellar cortical atrophy Abnormality of higher mental function Stooped posture Leg muscle stiffness Psychotic episodes Hypokinesia Global brain atrophy Thrombocytopenia Status epilepticus Fatigue EEG with burst suppression Impaired horizontal smooth pursuit Infantile encephalopathy Generalized tonic seizures Epileptic spasms Intellectual disability, profound Hypertonia Hypsarrhythmia Epileptic encephalopathy Generalized tonic-clonic seizures Severe global developmental delay Intellectual disability, severe Hypoplasia of the corpus callosum Dysphagia Intellectual disability, mild Mask-like facies Chorea Akinesia Apathy Anosmia Torticollis Intention tremor Psychosis Postural instability Myoclonus Distal sensory impairment Confusion Abnormality of the foot Abnormality of eye movement Abnormal pyramidal sign Aggressive behavior Recurrent infections Recurrent respiratory infections Cutis marmorata Generalized hypopigmentation of hair Acute lymphoblastic leukemia Neuroblastoma Myeloid leukemia Pleural effusion Sarcoma Paralysis Recurrent systemic pyogenic infections Chronic myelogenous leukemia Giant melanosomes in melanocytes Recurrent cutaneous abscess formation Abnormal leukocyte morphology Hypofibrinogenemia Recurrent bacterial skin infections Macular hypoplasia Meningioma Burkitt lymphoma Hypersplenism Stroke Hemiplegia Ischemic stroke Purpura Decreased antibody level in blood Ophthalmoplegia Papule Skin rash Primitive neuroectodermal tumor Elevated hepatic transaminase Abdominal pain Dilatation Neoplasm of the peripheral nervous system Peripheral neuroepithelioma Ewing sarcoma Partial albinism Progressive peripheral neuropathy Reduced visual acuity Abnormal bleeding Hyperpigmentation of the skin Amblyopia Hypertriglyceridemia Cutaneous photosensitivity Epistaxis Gastrointestinal hemorrhage Hypopigmentation of the skin Cranial nerve paralysis Neutropenia Sensory neuropathy Bruising susceptibility Abnormality of movement Photophobia Jaundice Skin ulcer Abnormality of vision Hemophagocytosis Iris hypopigmentation Spinocerebellar tract degeneration White hair Generalized hypopigmentation Fair hair Periodontitis Gingivitis Gingival bleeding Decreased nerve conduction velocity Hypopigmentation of hair Generalized hyperpigmentation Resting tremor Sensory axonal neuropathy Albinism Melanocytic nevus Decreased beta-galactosidase activity



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