Seizures, and Progressive hearing impairment

Diseases related with Seizures and Progressive hearing impairment

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


Top matches:

Low match HEREDITARY SENSORY NEUROPATHY-DEAFNESS-DEMENTIA SYNDROME


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

Low match CEREBELLAR ATAXIA-AREFLEXIA-PES CAVUS-OPTIC ATROPHY-SENSORINEURAL HEARING LOSS SYNDROME


Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss (CAPOS syndrome) is a rare autosomal dominant neurological disorder characterized by early onset cerebellar ataxia, associated with areflexia, progressive optic atrophy, sensorineural deafness, a pes cavus deformity, and abnormal eye movements.

CEREBELLAR ATAXIA-AREFLEXIA-PES CAVUS-OPTIC ATROPHY-SENSORINEURAL HEARING LOSS SYNDROME Is also known as capos syndrome

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about CEREBELLAR ATAXIA-AREFLEXIA-PES CAVUS-OPTIC ATROPHY-SENSORINEURAL HEARING LOSS SYNDROME

Low match MITOCHONDRIAL DNA-RELATED CARDIOMYOPATHY AND HEARING LOSS


Maternally inherited cardiomyopathy and hearing loss is a mitochondrial disease described in two unrelated families to date that has a heterogeneous clinical presentation characterized by the association of progressive sensorineural hearing loss with hypertrophic cardiomyopathy and, in the majority of cases, encephalomyopathy symptoms such as ataxia, slurred speech, progressive external opthalmoparesis (PEO), muscle weakness, myalgia, and exercise intolerance.

MITOCHONDRIAL DNA-RELATED CARDIOMYOPATHY AND HEARING LOSS Is also known as mtdna-related cardiomyopathy and hearing loss|trna-lys-related cardiomyopathy-hearing loss syndrome|maternally-inherited cardiomyopathy and deafness

Related symptoms:

  • Ataxia
  • Sensorineural hearing impairment
  • Muscle weakness
  • Hypertension
  • Peripheral neuropathy


SOURCES: ORPHANET MENDELIAN

More info about MITOCHONDRIAL DNA-RELATED CARDIOMYOPATHY AND HEARING LOSS

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Other less relevant matches:

Low match OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY


Syndromic optic atrophy, also known as DOA+ syndrome, is a neurologic disorder characterized most commonly by an insidious onset of visual loss and sensorineural hearing loss in childhood with variable presentation of other clinical manifestations including progressive external ophthalmoplegia (PEO), muscle cramps, hyperreflexia, and ataxia. There appears to be a wide range of intermediate phenotypes (Yu-Wai-Man et al., 2010).

OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY Is also known as dominant optic atrophy plus syndrome|doa+

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY

Low match MUCKLE-WELLS SYNDROME; MWS


Muckle-Wells syndrome (MWS) is characterized by episodic skin rash, arthralgias, and fever associated with late-onset sensorineural deafness and renal amyloidosis (Dode et al., 2002).See also familial cold-induced autoinflammatory syndrome-1 (FCAS1, CAPS1; {120100}), an allelic disorder with overlapping clinical features.

MUCKLE-WELLS SYNDROME; MWS Is also known as caps2|uda syndrome|urticaria-deafness-amyloidosis syndrome|cryopyrin-associated periodic syndrome 2

Related symptoms:

  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Pain
  • Anemia


SOURCES: OMIM MENDELIAN

More info about MUCKLE-WELLS SYNDROME; MWS

Low match INFANTILE CEREBELLAR-RETINAL DEGENERATION


Infantile cerebellar-retinal degeneration is a rare, neurodegenerative disorder characterized by an early onset of truncal hypotonia, variable forms of seizures, athetosis, severe global developmental delay, intellectual disability and various ophthalmologic abnormalities, including strabismus, nystagmus, optic atrophy and retinal degeneration.

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about INFANTILE CEREBELLAR-RETINAL DEGENERATION

Low match VESTIBULAR SCHWANNOMA


Vestibular schwannoma is a rare tumor of the posterior fossa originating in the Schwann cells of the vestibular transitional zone of the vestibulocochlear nerve that can be benign, small, slow growing and asymptomatic or large, faster growing and aggressive and potentially fatal, presenting with symptoms of hearing and balance impairment, vertigo, ataxia, headache and fifth, sixth or seventh cranial nerve dysfunction and facial numbness.

VESTIBULAR SCHWANNOMA Is also known as bilateral acoustic neurofibromatosis|acoustic neurilemoma|acoustic schwannomas, bilateral|banf|neurofibromatosis, central type|acoustic neurinoma|acn|acoustic neuroma|acoustic neurinoma, bilateral

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Neoplasm
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about VESTIBULAR SCHWANNOMA

Low match RIBOFLAVIN TRANSPORTER DEFICIENCY


Riboflavin transporter deficiency (RTD) is a progressive motor neuron disorder characterized by respiratory insufficiency, sensorineural deafness and progressive ponto-bulbar palsy.

RIBOFLAVIN TRANSPORTER DEFICIENCY Is also known as sensorineural hearing loss-pontobulbar palsy syndrome|brown-vialetto-van laere syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Muscle weakness
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about RIBOFLAVIN TRANSPORTER DEFICIENCY

Low match GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, CHILDHOOD COMBINED HEPATIC AND MYOPATHIC FORM


Glycogen storage disease III is an autosomal recessive metabolic disorder caused by deficiency of the glycogen debrancher enzyme and associated with an accumulation of abnormal glycogen with short outer chains. Most patients are enzyme-deficient in both liver and muscle (IIIa), but about 15% are enzyme-deficient in liver only (IIIb) (Shen et al., 1996). These subtypes have been explained by differences in tissue expression of the deficient enzyme (Endo et al., 2006). In rare cases, selective loss of only 1 of the 2 debranching activities, glucosidase or transferase, results in type IIIc or IIId, respectively. (Van Hoof and Hers, 1967; Ding et al., 1990).Clinically, patients with GSD III present in infancy or early childhood with hepatomegaly, hypoglycemia, and growth retardation. Muscle weakness in those with IIIa is minimal in childhood but can become more severe in adults; some patients develop cardiomyopathy (Shen et al., 1996).Lucchiari et al. (2007) provided a review of GSD III.

GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, CHILDHOOD COMBINED HEPATIC AND MYOPATHIC FORM Is also known as glycogenosis type iv, childhood combined hepatic and myopathic form|gde deficiency|glycogen storage disease type iv, childhood combined hepatic and myopathic form|gsd type 4, childhood combined hepatic and myopathic form|glycogenosis due to glycogen branc

Related symptoms:

  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, CHILDHOOD COMBINED HEPATIC AND MYOPATHIC FORM

Low match MATERNALLY-INHERITED DIABETES AND DEAFNESS


Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness.

MATERNALLY-INHERITED DIABETES AND DEAFNESS Is also known as ballinger-wallace syndrome|diabetes-deafness syndrome, maternally transmitted|mitochondrial diabetes|noninsulin-dependent diabetes mellitus with deafness|niddm with deafness|diabetes mellitus, type ii, with deafness|midd

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MATERNALLY-INHERITED DIABETES AND DEAFNESS

Top 5 symptoms//phenotypes associated to Seizures and Progressive hearing impairment

Symptoms // Phenotype % cases
Hearing impairment Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Sensorineural hearing impairment Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Peripheral neuropathy Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Seizures and Progressive hearing impairment. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Progressive sensorineural hearing impairment Optic atrophy Visual impairment Abnormality of eye movement Myalgia Encephalopathy Pain Hypertension Ptosis Progressive visual loss Gait disturbance Generalized hypotonia Intellectual disability Congestive heart failure Hypertrophic cardiomyopathy Ragged-red muscle fibers Strabismus Areflexia Hyporeflexia Myopathy Visual loss Dysarthria Dysphagia Skeletal muscle atrophy

Rare Symptoms - Less than 30% cases


Horizontal nystagmus Autistic behavior Facial palsy Hyperglycemia Abnormality of the eye Pes cavus Failure to thrive Intellectual disability, severe Vertigo Episodic ataxia Hyperreflexia Fatigue Retinal degeneration Progressive external ophthalmoplegia Anemia Cerebellar atrophy Cerebral cortical atrophy Hypogonadism Reduced visual acuity Ophthalmoplegia External ophthalmoplegia Renal insufficiency Cardiomyopathy Cataract Dystonia Mental deterioration Axonal loss Sensory neuropathy Hallucinations Abnormal autonomic nervous system physiology Blindness Nystagmus Cognitive impairment Bilateral vestibular Schwannoma Cortical cataract Gynecomastia Epiretinal membrane Ependymoma Pseudoepiphyses of the metacarpals Spinal cord tumor Decreased corneal sensation Vestibular Schwannoma Neuroma Retinal hamartoma Mononeuropathy Peripheral Schwannoma Bundle branch block Occasional neurofibromas Unilateral vestibular Schwannoma Neoplasm of the central nervous system Optic disc pallor Juvenile posterior subcapsular lenticular opacities Capsular cataract Muscular hypotonia Tremor Respiratory insufficiency Myoclonus Aggressive behavior Limb muscle weakness Lisch nodules Abnormality of the retinal vasculature Schwannoma Increased intracranial pressure Headache Left bundle branch block Paralysis Abnormality of lipid metabolism Corneal opacity Papule Retinal atrophy Generalized muscle weakness Migraine Subcutaneous nodule Cafe-au-lait spot Sensorimotor neuropathy Neoplasm of the skin Tinnitus Dysgraphia Oral-pharyngeal dysphagia Glomerulopathy Neurofibromas Multiple cafe-au-lait spots Hamartoma Abnormal retinal morphology Macular dystrophy Subcapsular cataract Posterior subcapsular cataract Meningioma Vestibular dysfunction Sleep apnea Astrocytoma Cranial nerve paralysis Bulbar palsy Cachexia Distal amyotrophy Proteinuria Abnormality of the liver Scarring Diabetes mellitus Constipation Arrhythmia Ketotic hypoglycemia Periportal fibrosis Micronodular cirrhosis Cirrhosis Thin vermilion border Hepatic failure Skeletal myopathy Broad nasal tip Proximal muscle weakness Recurrent corneal erosions Full cheeks Otitis media Ketosis Cardiomegaly Epistaxis Ventricular hypertrophy Hypertriglyceridemia Recurrent sinusitis Progressive muscle weakness Hepatic fibrosis Decreased liver function Sinusitis Carcinoma Elevated hepatic transaminase Diabetes insipidus Bilateral sensorineural hearing impairment Abnormality of color vision Hyperlipidemia Iris hypopigmentation Abnormal cranial nerve morphology Abnormality of macular pigmentation Short stature Aplasia/Hypoplasia of the cerebellum Growth delay Depressed nasal bridge Constriction of peripheral visual field Hepatomegaly Pancytopenia Type II diabetes mellitus Pigmentary retinopathy Deeply set eye Unsteady gait Anteverted nares Malabsorption Intellectual disability, mild Malar flattening Immunodeficiency Retinopathy Midface retrusion Obesity Elevated serum creatine phosphokinase Abnormality of the kidney Thin upper lip vermilion Neoplasm Hypoglycemia Renal amyloidosis Vegetative state Abnormality of cardiovascular system morphology Dysmetria Postural instability Bradykinesia Hemiparesis Limb ataxia Truncal ataxia Torticollis Incoordination Drowsiness Motor deterioration Anarthria Moderate hearing impairment Episodic generalized hypotonia Dyspnea Abnormality of the nervous system Dilated cardiomyopathy Chest pain Increased serum lactate Febrile seizures EMG abnormality Exercise intolerance Slurred speech Ophthalmoparesis Multiple lipomas Mild global developmental delay Lower limb pain Increased serum pyruvate Increased adipose tissue Lethargy Gait ataxia Spastic paraplegia Impulsivity Cerebral atrophy Dementia Hyperhidrosis Irritability Paresthesia Distal sensory impairment Neurodegeneration Gliosis Sensory impairment Memory impairment Neuronal loss in central nervous system Apathy Personality changes Osteomyelitis Narcolepsy Global brain atrophy Severe hearing impairment Decreased number of peripheral myelinated nerve fibers Neurofibrillary tangles Onion bulb formation Delusions Lewy bodies Visual hallucinations Diffuse cerebral atrophy Excessive daytime somnolence Sensory ataxia Delirium Cataplexy Spasticity Paraplegia Demyelinating peripheral neuropathy Acidosis Abnormality of the mouth Papilledema Microscopic hematuria Recurrent aphthous stomatitis Chills Cystinuria Band keratopathy Rigors Global developmental delay Microcephaly Hypoplasia of the corpus callosum Edema Agenesis of corpus callosum Muscular hypotonia of the trunk Amyloidosis Apnea Pallor Severe global developmental delay Retinal dystrophy Metabolic acidosis Generalized-onset seizure Progressive microcephaly Bradycardia Increased body weight Athetosis Muscle fibrillation Poor eye contact Central apnea Episodic fever Elevated erythrocyte sedimentation rate Muscle cramps Arthralgia Abnormal electroretinogram Increased variability in muscle fiber diameter Macrocytic anemia Central scotoma Abnormal auditory evoked potentials Red-green dyschromatopsia Tritanomaly Centrocecal scotoma Abnormal amplitude of pattern reversal visual evoked potentials Fever Abnormality of the skeletal system Diarrhea Abdominal pain Hepatosplenomegaly Leukocytosis Arthritis Skin rash Lymphadenopathy Ichthyosis Stage 5 chronic kidney disease Hematuria Nephropathy Coma Abnormality of the skin Nephrotic syndrome Meningitis Vasculitis Conjunctivitis Urticaria Abnormal chorioretinal morphology



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