Ataxia, and Bilateral sensorineural hearing impairment

Diseases related with Ataxia and Bilateral sensorineural hearing impairment

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


Top matches:

Medium match SPINOCEREBELLAR ATAXIA TYPE 31


Spinocerebellar ataxia type 31 (SCA31) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III; see this term) characterized by the late-onset of cerebral ataxia, dysarthria and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and hearing difficulties.

SPINOCEREBELLAR ATAXIA TYPE 31 Is also known as sca31|spinocerebellar ataxia, 16q22-linked

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 31

Medium match JUVENILE-ONSET DIABETES MELLITUS-CENTRAL AND PERIPHERAL NEURODEGENERATION SYNDROME


JUVENILE-ONSET DIABETES MELLITUS-CENTRAL AND PERIPHERAL NEURODEGENERATION SYNDROME Is also known as combined cerebellar and peripheral ataxia-hearing loss-diabetes mellitus syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Cognitive impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about JUVENILE-ONSET DIABETES MELLITUS-CENTRAL AND PERIPHERAL NEURODEGENERATION SYNDROME

Medium match PENDRED SYNDROME


Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter.

PENDRED SYNDROME Is also known as thyroid hormonogenesis, genetic defect in, 2b|goiter-deafness syndrome|deafness with goiter|tdh2b|hypothyroidism, congenital, due to dyshormonogenesis, 2b|thyroid dyshormonogenesis 2b

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Respiratory insufficiency


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PENDRED SYNDROME

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Other less relevant matches:

Medium match AUTOSOMAL RECESSIVE SPASTIC ATAXIA WITH LEUKOENCEPHALOPATHY


AUTOSOMAL RECESSIVE SPASTIC ATAXIA WITH LEUKOENCEPHALOPATHY Is also known as autosomal recessive spastic ataxia with leukoencephalopathy|spax3|autosomal recessive spastic ataxia type 3|arsal

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Spasticity


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC ATAXIA WITH LEUKOENCEPHALOPATHY

Medium match FRONTOTEMPORAL DEMENTIA WITH MOTOR NEURON DISEASE


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

Medium match SENSORY ATAXIC NEUROPATHY-DYSARTHRIA-OPHTHALMOPARESIS SYNDROME


Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome is characterised by adult-onset severe sensory ataxic neuropathy, dysarthria and chronic progressive external ophthalmoplegia.

SENSORY ATAXIC NEUROPATHY-DYSARTHRIA-OPHTHALMOPARESIS SYNDROME Is also known as sando

Related symptoms:


SOURCES: ORPHANET MENDELIAN

More info about SENSORY ATAXIC NEUROPATHY-DYSARTHRIA-OPHTHALMOPARESIS SYNDROME

Medium match X-LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 5


X-linked Charcot-Marie-Tooth disease type 5 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infancy- to childhood-onset of: 1) progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, 2) bilateral, profound, prelingual sensorineural hearing loss and 3) progressive optic neuropathy. Females are asymptomatic and do not display the phenotype.

X-LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 5 Is also known as cmt5x|cmtx5|optic atrophy, polyneuropathy, and deafness|rosenberg-chutorian syndrome|charcot-marie-tooth neuropathy, x-linked recessive, 5

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 5

Medium match WOLFRAM-LIKE SYNDROME


Wolfram-like syndrome is a rare endocrine disease characterized by the triad of adult-onset diabetes mellitus, progressive hearing loss (usually presenting in the first decade of life and principally of low to moderate frequencies), and/or juvenile-onset optic atrophy. Psychiatric (i.e. anxiety, depression, hallucinations) and sleep disorders, the only neurologic abnormalities observed in this disease, have been reported in rare cases. Unlike Wolfram syndrome, patients with Wolfram-like syndrome do not report endocrine or cardiac findings.

WOLFRAM-LIKE SYNDROME Is also known as hearing loss, progressive, with optic atrophy and/or impaired glucose regulation

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Visual impairment
  • Peripheral neuropathy


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about WOLFRAM-LIKE SYNDROME

Medium match BEHR SYNDROME; BEHRS


'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

Medium match METACHROMATIC LEUKODYSTROPHY, JUVENILE FORM


METACHROMATIC LEUKODYSTROPHY, JUVENILE FORM Is also known as arylsulfatase a deficiency, juvenile form|mld, juvenile form

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscle weakness
  • Spasticity
  • Dysarthria


SOURCES: ORPHANET MENDELIAN

More info about METACHROMATIC LEUKODYSTROPHY, JUVENILE FORM

Top 5 symptoms//phenotypes associated to Ataxia and Bilateral sensorineural hearing impairment

Symptoms // Phenotype % cases
Hearing impairment Common - Between 50% and 80% cases
Sensorineural hearing impairment Common - Between 50% and 80% cases
Peripheral neuropathy Common - Between 50% and 80% cases
Dysarthria Common - Between 50% and 80% cases
Cerebellar atrophy Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Ataxia and Bilateral sensorineural hearing impairment. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Babinski sign Generalized hypotonia Nystagmus Spasticity Tremor Optic atrophy Gait ataxia Hallucinations Sensorimotor neuropathy Progressive hearing impairment Dementia Muscle weakness Gait disturbance Progressive cerebellar ataxia Cerebral atrophy Dystonia Cognitive impairment Hyperreflexia Hyporeflexia Frequent falls

Rare Symptoms - Less than 30% cases


Psychosis Dysmetria Seizures Dysphagia Depressivity Myopathy Distal muscle weakness Gliosis Neuronal loss in central nervous system Paraparesis Congenital nystagmus Peripheral axonal neuropathy Emotional lability Optic neuropathy Global developmental delay Motor delay Progressive visual loss Visual loss Pes cavus Reduced visual acuity Falls Scoliosis Pallor Delusions Areflexia Congenital sensorineural hearing impairment Sensory neuropathy Hypothyroidism Areflexia of lower limbs Respiratory insufficiency Intellectual disability Diabetes mellitus Intellectual disability, mild Sensory impairment Type II diabetes mellitus Abnormality of the pinna Autistic behavior Retinopathy Ophthalmoplegia Delayed puberty Distal amyotrophy Schizophrenia Anxiety Glucose intolerance Diabetes insipidus Abnormality of color vision Scotoma Severe vision loss Severe postnatal growth retardation Male hypogonadism Distal sensory impairment Glaucoma Autism Onion bulb formation Optic disc pallor Broad-based gait Brisk reflexes Language impairment Skeletal muscle hypertrophy Mildly elevated creatine phosphokinase Macular atrophy Polyneuropathy Hyperactive deep tendon reflexes Impaired pain sensation Impaired vibratory sensation Truncal ataxia Excessive daytime somnolence Kinetic tremor Abnormal nerve conduction velocity Visual impairment Limb ataxia Segmental peripheral demyelination/remyelination Abnormality of the upper urinary tract Gastrointestinal dysmotility Progressive gait ataxia Urinary incontinence Intention tremor Clumsiness Leukodystrophy Decreased nerve conduction velocity Loss of speech Abnormality of visual evoked potentials Increased CSF protein Short attention span Developmental regression Vegetative state Progressive peripheral neuropathy Cholecystitis EMG: chronic denervation signs Decerebrate rigidity Progressive psychomotor deterioration Abnormal social behavior Abnormality of glycosphingolipid metabolism Punctate periventricular T2 hyperintense foci Abdominal distention Adductor longus contractures Short stature Aciduria Central diabetes insipidus Primary gonadal insufficiency Moderate hearing impairment Flexion contracture Myopia Paralysis Abnormal pyramidal sign Abnormal cerebellum morphology Spastic gait Hamstring contractures Ragged-red muscle fibers Dysdiadochokinesis Abnormality of mitochondrial metabolism Axonal degeneration Progressive spasticity Rimmed vacuoles Achilles tendon contracture Upper motor neuron dysfunction 3-Methylglutaconic aciduria Gaze-evoked horizontal nystagmus Hyperparathyroidism Paresthesia Respiratory failure Nephropathy Ptosis Skeletal muscle atrophy Vertigo Behavioral abnormality Neurological speech impairment Carcinoma Myoclonus Rigidity Spastic ataxia Proximal muscle weakness Limb muscle weakness Neurodegeneration Parkinsonism Abnormality of metabolism/homeostasis Chorea Brain atrophy Memory impairment Mild hearing impairment Spastic dysarthria Bradykinesia Euthyroid goiter Alkalosis Thyroid carcinoma Metabolic alkalosis Abnormality of the inner ear Cochlear malformation Hypoplasia of the cochlea Compensated hypothyroidism Unilateral deafness Enlarged vestibular aqueduct Urinary urgency Thyroid nodule Abnormality of the thyroid gland Vestibular dysfunction Cerebellar hypoplasia Cerebral cortical atrophy Goiter Horizontal nystagmus Leukoencephalopathy Dilatation Abnormality of extrapyramidal motor function Lower limb muscle weakness Weakness due to upper motor neuron dysfunction Degeneration of the lateral corticospinal tracts Perseveration Abnormal upper motor neuron morphology Dyscalculia Motor neuron atrophy Abnormal mitochondrial morphology Extrapyramidal dyskinesia Neuronal loss in the cerebral cortex Demyelinating peripheral neuropathy Olivopontocerebellar atrophy Cataract Atrophy/Degeneration affecting the brainstem Type I diabetes mellitus Kyphosis Decreased body weight Elevated serum creatine phosphokinase Rod-cone dystrophy Tracheal stenosis Disinhibition Focal dystonia Apraxia Alzheimer disease Tetraparesis Fasciculations Atrophy of the spinal cord Mutism Apathy Personality changes Impulsivity Sensory ataxia Amyotrophic lateral sclerosis Supranuclear gaze palsy Global brain atrophy Generalized amyotrophy Bulbar palsy Neurofibrillary tangles Bipolar affective disorder Frontotemporal dementia Abnormal lower motor neuron morphology Visual hallucinations Abnormality of proteoglycan metabolism



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