Hearing impairment, and Gliosis

Diseases related with Hearing impairment and Gliosis

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

Top matches:

Hereditary sensory neuropathy type IE is an autosomal dominant neurodegenerative disorder characterized by adult onset of progressive peripheral sensory loss associated with progressive hearing impairment and early-onset dementia (summary by Klein et al., 2011).For a discussion of genetic heterogeneity of HSN, see HSAN1A (OMIM ).

HEREDITARY SENSORY NEUROPATHY-DEAFNESS-DEMENTIA SYNDROME Is also known as hsn ie|hsn1e|hereditary sensory neuropathy-sensorineural hearing loss-dementia syndrome|hsan1e|neuropathy, hereditary sensory, with hearing loss and dementia

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Pain


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HEREDITARY SENSORY NEUROPATHY-DEAFNESS-DEMENTIA SYNDROME

Otofaciocervical syndrome (OTFCS) is a rare disorder characterized by facial anomalies, cup-shaped low-set ears, preauricular fistulas, hearing loss, branchial defects, skeletal anomalies including vertebral defects, low-set clavicles, winged scapulae, sloping shoulders, and mild intellectual disability (summary by Pohl et al., 2013).For a discussion of genetic heterogeneity of otofaciocervical syndrome, see OTFCS1 (OMIM ).

OTOFACIOCERVICAL SYNDROME 2; OTFCS2 Is also known as ofc2

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Low-set ears
  • Downslanted palpebral fissures
  • Abnormality of the skeletal system


SOURCES: OMIM MENDELIAN

More info about OTOFACIOCERVICAL SYNDROME 2; OTFCS2

Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards.

MOHR-TRANEBJAERG SYNDROME Is also known as deafness syndrome, progressive, with blindness, dystonia, fractures, and mental deficiency|deafness-dystonia-optic atrophy syndrome|deafness-dystonia-optic neuronopathy syndrome|dystonia-deafness syndrome|ddon syndrome|opticoacoustic nerve atrophy with de

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Sensorineural hearing impairment
  • Spasticity
  • Visual impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MOHR-TRANEBJAERG SYNDROME

Other less relevant matches:

Frontotemporal dementia with motor neuron disease (FTD-MND) is a type of frontotemporal lobar degeneration characterized by the insidious onset (between the ages of 38-78 years) of dementia-associated psychiatric symptoms (e.g. personality changes, uninhibited behavior, irritability, aggressiveness), memory difficulties, global intellectual impairment, emotional disorders and transcortical motor aphasia that eventually leads to mutism, in addition to the manifestations of motor neuron disease such as neurogenic muscular wasting (similar to what is seen in amyotrophic lateral sclerosis; see this term). The disease is progressive, with death occurring 2-5 years after onset.

FRONTOTEMPORAL DEMENTIA WITH MOTOR NEURON DISEASE Is also known as frontotemporal dementia and/or amyotrophic lateral sclerosis|frontotemporal dementia with amyotrophic lateral sclerosis|ftd-mnd|ftdmnd|ftd-als|amyotrophic lateral sclerosis and/or frontotemporal dementia|alsftd|frontotemporal dementia and/or motor neuron

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Ptosis
  • Cognitive impairment
  • Dysarthria


SOURCES: OMIM ORPHANET MENDELIAN

More info about FRONTOTEMPORAL DEMENTIA WITH MOTOR NEURON DISEASE

Gerstmann-Straussler-Scheinker syndrome (GSSS) is a particular and rare form of human transmissible spongiform encephalopathy (TSE) due to a defective gene encoding the prion protein (PRNP gene) and marked by particular multicentric amyloid plaques in the brain.

GERSTMANN-STRAUSSLER-SCHEINKER SYNDROME Is also known as gerstmann-straussler-scheinker disease|prion dementia|subacute spongiform encephalopathy, gerstmann-straussler type|encephalopathy, subacute spongiform, gerstmann-straussler type|amyloidosis, cerebral, with spongiform encephalopathy|cerebellar ataxia, pro

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Spasticity


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about GERSTMANN-STRAUSSLER-SCHEINKER SYNDROME

The disorders involving primarily the cerebellar parenchyma have been classified into six forms. In cerebelloparenchymal disorder III, cerebellar ataxia is congenital (non-progressive) and characterized by cerebellar symptoms such as incoordination of gait often associated with poor coordination of hands, speech and eye movements. The other features are congenital mental retardation and hypotonia, in addition to other neurological and non-neurological features. MRI or CT scan show marked atrophy of the vermis and hemispheres. A severe loss of granule cells with heterotopic Purkinje cells is observed. The mode of inheritance in the few reported families is autosomal recessive. In one family, cerebellar ataxia was associated to albinism.: In a large inbred Lebanese family the disease locus was assigned to a 12.1-cM interval on chromosome 9q34-qter between markers D9S67 and D9S312. The primary biochemical defect remains unknown. Up to now, the only treatment has consisted in early interventional therapies including intensive speech therapy and adequate stimulation and/or training.

AUTOSOMAL RECESSIVE CEREBELLOPARENCHYMAL DISORDER TYPE 3 Is also known as cpd iii|scar2|cpd3|cerebellar granular cell hypoplasia and mental retardation, congenital|autosomal recessive spinocerebellar ataxia type 2|cerebellar hypoplasia, nonprogressive norman type|cerebelloparenchymal disorder iii

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE CEREBELLOPARENCHYMAL DISORDER TYPE 3

Combined oxidative phosphorylation defect type 14 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by neonatal or infancy-onset of seizures that are refractory to treatment, delayed or absent psychomotor development and lactic acidosis. Additional manifestations reported include poor feeding, failure to thrive, microcephaly, hypotonia, anemia and thrombocytopenia.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 14 Is also known as coxpd14

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 14

'Behr syndrome' is a clinical term that refers to the constellation of early-onset optic atrophy accompanied by neurologic features, including ataxia, pyramidal signs, spasticity, and mental retardation (Behr, 1909; Thomas et al., 1984).Patients with mutations in genes other than OPA1 can present with clinical features reminiscent of Behr syndrome. Mutations in one of these genes, OPA3 (OMIM ), result in type III 3-methylglutaconic aciduria (MGCA3 ). Lerman-Sagie (1995) noted that the abnormal urinary pattern in MGCA3 may not be picked up by routine organic acid analysis, suggesting that early reports of Behr syndrome with normal metabolic features may actually have been 3-methylglutaconic aciduria type III.

BEHR SYNDROME; BEHRS Is also known as optic atrophy, infantile hereditary, with neurologic abnormalities

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BEHR SYNDROME; BEHRS

L-2-hydroxyglutaric aciduria is a primarily neurological form of 2-hydroxyglutaric aciduria (see this term) characterized by psychomotor retardation, cerebellar ataxia and variable macrocephaly or epilepsy.

L-2-HYDROXYGLUTARIC ACIDURIA Is also known as l-2-hga|l-2-hydroxyglutaric acidemia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about L-2-HYDROXYGLUTARIC ACIDURIA

Brown-Vialetto-Van Laere syndrome is a rare autosomal recessive neurologic disorder characterized by sensorineural hearing loss and a variety of cranial nerve palsies, usually involving the motor components of the seventh and ninth to twelfth (more rarely the third, fifth, and sixth) cranial nerves. Spinal motor nerves and, less commonly, upper motor neurons are sometimes affected, giving a picture resembling amyotrophic lateral sclerosis (ALS ). The onset of the disease is usually in the second decade, but earlier and later onset have been reported. Hearing loss tends to precede the onset of neurologic signs, mostly progressive muscle weakness causing respiratory compromise. However, patients with very early onset may present with bulbar palsy and may not develop hearing loss until later. The symptoms, severity, and disease duration are variable (summary by Green et al., 2010). Genetic Heterogeneity of Brown-Vialetto-Van Laere SyndromeSee also BVVLS2 (OMIM ), caused by mutation in the SLC52A2 gene (OMIM ) on chromosome 8q.

BROWN-VIALETTO-VAN LAERE SYNDROME 1; BVVLS1 Is also known as bulbar palsy, progressive, with sensorineural deafness|pontobulbar palsy with deafness

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about BROWN-VIALETTO-VAN LAERE SYNDROME 1; BVVLS1

Top 5 symptoms//phenotypes associated to Hearing impairment and Gliosis

Symptoms // Phenotype % cases
Ataxia Common - Between 50% and 80% cases
Dysarthria Common - Between 50% and 80% cases
Hyperreflexia Common - Between 50% and 80% cases
Neuronal loss in central nervous system Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hearing impairment and Gliosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Tremor Gait ataxia Cerebellar atrophy Intellectual disability Dysphagia Dementia Sensorineural hearing impairment Peripheral neuropathy Spasticity Hyporeflexia Global developmental delay Global brain atrophy Generalized hypotonia Abnormal cerebellum morphology Nystagmus Myoclonus Babinski sign Dysmetria Delayed speech and language development Paralysis Dystonia Abnormality of extrapyramidal motor function Gait disturbance Behavioral abnormality Cerebral atrophy Neurofibrillary tangles Hallucinations Memory impairment Neurodegeneration Personality changes Apathy Motor delay Muscular hypotonia Optic atrophy Cerebral cortical atrophy Mental deterioration

Rare Symptoms - Less than 30% cases

Atrophy/Degeneration affecting the brainstem Muscle weakness Ragged-red muscle fibers Myopathy Visual loss Encephalopathy Supranuclear gaze palsy Bulbar palsy Perseveration Ptosis Bilateral sensorineural hearing impairment Amyotrophic lateral sclerosis Alzheimer disease Emotional lability Mutism Fasciculations Tetraparesis Psychosis Apraxia Brain atrophy Cognitive impairment Axonal degeneration Progressive cerebellar ataxia Parkinsonism Limb muscle weakness Proximal muscle weakness Rigidity Respiratory failure Depressivity Bradykinesia Aciduria Blindness Scoliosis Lewy bodies Limb ataxia Truncal ataxia Visual hallucinations Impulsivity Unsteady gait Microcephaly Dysdiadochokinesis Delusions Growth delay Paresthesia Myopia Diffuse cerebral atrophy Abnormal pyramidal sign Visual impairment Pes cavus Clumsiness Enlarged cisterna magna Type 2 muscle fiber atrophy Ocular albinism Hyperactive deep tendon reflexes Gaze-evoked nystagmus White hair Mitochondrial encephalopathy Epilepsia partialis continua Incoordination Flexion contracture Generalized hypopigmentation Nonprogressive cerebellar ataxia Abnormality of the retinal vasculature EEG abnormality Increased serum lactate Epileptic encephalopathy Hypsarrhythmia Status epilepticus Lactic acidosis Aminoaciduria Paraplegia Spastic paraplegia Acidosis Dilated fourth ventricle Thrombocytopenia Abnormality of the mitochondrion Hypoplasia of the corpus callosum Ventriculomegaly Wide nasal bridge Feeding difficulties Anemia Saccadic smooth pursuit Generalized aminoaciduria Generalized myoclonic seizures Rimmed vacuoles Falls Cranial nerve paralysis L-2-hydroxyglutaric acidemia Severe demyelination of the white matter Respiratory insufficiency Respiratory distress Kyphosis Recurrent respiratory infections Facial palsy Pallor Ophthalmoplegia Progressive muscle weakness Clonus External ophthalmoplegia Stridor Ependymoma Oral-pharyngeal dysphagia Myopathic facies Ankle clonus Neck muscle weakness Hypoventilation Vocal cord paralysis Tongue fasciculations Tongue atrophy Weak voice Diaphragmatic weakness Hand muscle atrophy Nocturnal hypoventilation Knee clonus L-2-hydroxyglutaric aciduria Neoplasm of the nervous system Progressive visual loss Macrocephaly Frequent falls Spastic gait Sensorimotor neuropathy Abnormality of mitochondrial metabolism Progressive spasticity Congenital nystagmus Achilles tendon contracture Upper motor neuron dysfunction 3-Methylglutaconic aciduria Hamstring contractures Adductor longus contractures Strabismus Atrial septal defect Morphological abnormality of the pyramidal tract Intellectual disability, severe Intellectual disability, mild Developmental regression Leukodystrophy Horizontal nystagmus Intellectual disability, progressive Spastic tetraparesis Leukoencephalopathy Encephalitis Aplasia/Hypoplasia of the cerebellum Dysphasia Corpus callosum atrophy Organic aciduria Intention tremor Aggressive behavior Hypopigmentation of the skin Lacrimal duct stenosis Dental malocclusion Blue sclerae Long eyelashes Microretrognathia Scapular winging Cutaneous syndactyly Cupped ear Preauricular pit Mixed hearing impairment Down-sloping shoulders Alacrima Carious teeth Mastoiditis Hyperactivity Reduced visual acuity Photophobia Cerebral visual impairment Abnormal electroretinogram Increased susceptibility to fractures Constriction of peripheral visual field Progressive sensorineural hearing impairment Optic neuropathy Tapered finger Intellectual disability, moderate Abnormal posturing Decreased number of peripheral myelinated nerve fibers Pain Hyperhidrosis Irritability Distal sensory impairment Sensory neuropathy Sensory impairment Abnormal autonomic nervous system physiology Progressive hearing impairment Osteomyelitis Severe hearing impairment Axonal loss Retrognathia Onion bulb formation Excessive daytime somnolence Sensory ataxia Delirium Cataplexy Narcolepsy Low-set ears Downslanted palpebral fissures Abnormality of the skeletal system Syndactyly Clinodactyly Agammaglobulinemia Basal ganglia gliosis Malabsorption Slurred speech Lower limb muscle weakness Confusion Coma Tetraplegia Hip dysplasia Spastic tetraplegia Involuntary movements Chronic diarrhea Muscle stiffness Hyperkinesis Akinesia Abnormality of eye movement Athetosis Aphasia Insomnia Impaired smooth pursuit Hypomimic face Dysesthesia Cerebral amyloid angiopathy Short stature Cataract Cerebellar hypoplasia Pes planus Poor speech Abnormality of the eye Postlingual sensorineural hearing impairment Disinhibition Skeletal muscle atrophy Distal muscle weakness Chorea Paraparesis Generalized amyotrophy Bipolar affective disorder Frontotemporal dementia Abnormal lower motor neuron morphology Focal dystonia Olivopontocerebellar atrophy Degeneration of the lateral corticospinal tracts Anxiety Abnormal upper motor neuron morphology Dyscalculia Motor neuron atrophy Abnormal mitochondrial morphology Extrapyramidal dyskinesia Neuronal loss in the cerebral cortex Weakness due to upper motor neuron dysfunction Diarrhea Areflexia Weight loss Difficulty walking Cranial nerve motor loss


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