Hearing impairment, and Generalized myoclonic seizures

Diseases related with Hearing impairment and Generalized myoclonic seizures

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

Top matches:

Low match HISTIDINEMIA

Histidinemia is a rare metabolic disorder characterized by elevated histidine levels in blood, urine, and cerebrospinal fluid, generally with no clinical repercussions.

HISTIDINEMIA Is also known as his deficiency|histidinuria|histidase deficiency|hyperhistidinemia|hal deficiency|histidine ammonia-lyase deficiency

Related symptoms:

  • Intellectual disability
  • Sensorineural hearing impairment
  • Wide nasal bridge
  • Long philtrum
  • Macrotia


SOURCES: ORPHANET OMIM MENDELIAN

More info about HISTIDINEMIA

Neonatal intractable myoclonus is a severe neurologic disorder characterized by the onset of intractable myoclonic seizures soon after birth. Affected infants have intermittent apnea, abnormal eye movements, pallor of the optic nerve, and lack of developmental progress. Brain imaging shows a progressive leukoencephalopathy. Some patients may die in infancy. There is phenotypic and biochemical evidence of mitochondrial dysfunction (summary by Duis et al., 2016).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about MYOCLONUS, INTRACTABLE, NEONATAL; NEIMY

Fiskerstrand type peripheral neuropathy is a slowly-progressive Refsum-like disorder associating signs of peripheral neuropathy with late-onset hearing loss, cataract and pigmentary retinopathy that become evident during the third decade of life.

POLYNEUROPATHY-HEARING LOSS-ATAXIA-RETINITIS PIGMENTOSA-CATARACT SYNDROME Is also known as peripheral neuropathy, fiskerstrand type|pharc syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about POLYNEUROPATHY-HEARING LOSS-ATAXIA-RETINITIS PIGMENTOSA-CATARACT SYNDROME

Other less relevant matches:

Spinal muscular atrophy-progressive myoclonic epilepsy syndrome is characterized by hereditary myoclonus and progressive distal muscular atrophy. Less than 10 cases have been reported. Treatment with clonazepam results in complete and lasting improvement of the myoclonus.

SPINAL MUSCULAR ATROPHY-PROGRESSIVE MYOCLONIC EPILEPSY SYNDROME Is also known as hereditary myoclonus-progressive distal muscular atrophy syndrome|jankovic-rivera syndrome|myoclonus, hereditary, with progressive distal muscular atrophy

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SPINAL MUSCULAR ATROPHY-PROGRESSIVE MYOCLONIC EPILEPSY SYNDROME

MGCA8 is an autosomal recessive metabolic disorder resulting in death in infancy. Features include hypotonia, abnormal movements, respiratory insufficiency with apneic episodes, and lack of developmental progress, often with seizures. Brain imaging is variable, but may show progressive cerebral atrophy. Laboratory studies show increased serum lactate and 3-methylglutaconic aciduria, suggesting a mitochondrial defect (summary by Mandel et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of 3-methylglutaconic aciduria, see MGCA type I (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII; MGCA8

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

Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM, see this term) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment.

PERMANENT NEONATAL DIABETES MELLITUS Is also known as monogenic diabetes of infancy|pndm

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about PERMANENT NEONATAL DIABETES MELLITUS

Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes (NDM, see this term) characterized by hyperglycemia presenting in the neonatal period that remits during infancy but recurs in later life in most patients.

TRANSIENT NEONATAL DIABETES MELLITUS Is also known as tndm3|tndm

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about TRANSIENT NEONATAL DIABETES MELLITUS

Spastic paraplegia-severe developmental delay-epilepsy syndrome is a rare, genetic, complex spastic paraplegia disorder characterized by an infantile-onset of psychomotor developmental delay with severe intellectual disability and poor speech acquisition, associated with seizures (mostly myoclonic), muscular hypotonia which may be noted at birth, and slowly progressive spasticity in the lower limbs leading to severe gait disturbances. Ocular abnormalities and incontinence are commonly associated. Other symptoms may include verbal dyspraxia, hypogenitalism, macrocephaly and sensorineural hearing loss, as well as dystonic movements and ataxia with upper limb involvement.

SPASTIC PARAPLEGIA-SEVERE DEVELOPMENTAL DELAY-EPILEPSY SYNDROME Is also known as spastic paraplegia-psychomotor retardation-seizures syndrome|spprs syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPASTIC PARAPLEGIA-SEVERE DEVELOPMENTAL DELAY-EPILEPSY SYNDROME

Spinocerebellar ataxia with epilepsy is a rare, mitochondrial DNA maintenance syndrome characterized by cerebellar ataxia, sensory peripheral neuropathy, myoclonus, epilepsy, progressive cognitive impairment, late-onset ptosis and external ophthalmoplegia. Liver failure may also occur, most often in association with the use of antiepileptic drug sodium valproate.

SPINOCEREBELLAR ATAXIA WITH EPILEPSY Is also known as mitochondrial spinocerebellar ataxia with epilepsy|mscae|sensory ataxic neuropathy with mitochondrial dna deletions, autosomal recessive|scae

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA WITH EPILEPSY

Top 5 symptoms//phenotypes associated to Hearing impairment and Generalized myoclonic seizures

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Sensorineural hearing impairment Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Tremor Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hearing impairment and Generalized myoclonic seizures. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay Microcephaly Myoclonus Ataxia Muscular hypotonia Babinski sign Weight loss Cataract Areflexia Hyperreflexia Generalized tonic-clonic seizures Dysarthria Downturned corners of mouth Increased serum lactate Pes cavus Respiratory insufficiency Cerebral atrophy Nystagmus EEG abnormality Hypoplasia of the corpus callosum Gait disturbance Bilateral ptosis Feeding difficulties

Rare Symptoms - Less than 30% cases

Delayed speech and language development Visual impairment Encephalopathy Ventriculomegaly Dystonia Fasciculations Acidosis Frequent falls Falls Unsteady gait Spastic paraplegia Proximal muscle weakness Difficulty walking Growth delay Ragged-red muscle fibers Lactic acidosis Apraxia Contractures of the joints of the lower limbs Hypovolemia Abnormality of the upper urinary tract Autoimmune antibody positivity Ketonuria Renal tubular dysfunction Prominent metopic ridge Glycosuria Neurodevelopmental delay Hyperglycemia Dehydration Gliosis Coma Peripheral axonal neuropathy Arthrogryposis multiplex congenita Abnormal heart morphology Intrauterine growth retardation Motor delay Failure to thrive Muscle weakness Status epilepticus Neuronal loss in central nervous system Pneumonia Paraplegia Scoliosis Apnea Wide nasal bridge Hyporeflexia Cerebellar atrophy Blindness Peripheral neuropathy Spasticity Distal sensory impairment Polyneuropathy Broad-based gait Cerebral visual impairment Delayed myelination Abnormality of eye movement Abnormality of mitochondrial metabolism Dysphagia Ptosis Gait ataxia Skeletal muscle atrophy Abnormality of the skeletal system Lumbar hyperlordosis Tetraparesis Lower limb spasticity Abnormality of the pancreatic islet cells Progressive spastic paraplegia Overweight Transient neonatal diabetes mellitus Cerebral white matter atrophy Puberty and gonadal disorders Maternal diabetes Steatorrhea Insulin resistance Structural foot deformity Diabetes mellitus Waddling gait Elevated hemoglobin A1c Urinary incontinence Exophoria Talipes equinovarus Kyphosis Myopia Strabismus Obesity Deeply set eye Muscular hypotonia of the trunk Macrocephaly Developmental regression Hip dislocation Hypertelorism Abnormality of the foot Inability to walk Short stature Retinal dystrophy Abnormality of the musculature of the lower limbs Delayed peripheral myelination Intestinal pseudo-obstruction Axonal degeneration Gaze-evoked nystagmus Decreased number of peripheral myelinated nerve fibers Centrally nucleated skeletal muscle fibers Axonal loss Hyperventilation Progressive external ophthalmoplegia Progressive gait ataxia Sensory ataxia Positive Romberg sign Mildly elevated creatine phosphokinase Acute encephalopathy Gastroparesis Muscle fiber necrosis Cytochrome C oxidase-negative muscle fibers Impaired distal vibration sensation Impaired distal proprioception Multiple mitochondrial DNA deletions Subsarcolemmal accumulations of abnormally shaped mitochondria Sensory ataxic neuropathy Vestibular dysfunction Impotence Absent pubertal growth spurt Dilated cardiomyopathy Focal myoclonic seizures Cognitive impairment Cardiomyopathy Myopathy Headache Depressivity Elevated serum creatine phosphokinase Mental deterioration Distal muscle weakness Ophthalmoplegia Sensory axonal neuropathy Paresthesia Progressive cerebellar ataxia Brain atrophy Migraine Focal-onset seizure Limb ataxia External ophthalmoplegia Progressive hearing impairment Ophthalmoparesis Increased variability in muscle fiber diameter Reduced pancreatic beta cells Short middle phalanx of finger Neonatal insulin-dependent diabetes mellitus Fever Oral-pharyngeal dysphagia Loss of consciousness Generalized amyotrophy Atonic seizures Tongue fasciculations Degeneration of anterior horn cells Progressive distal muscular atrophy Intention tremor Spinal muscular atrophy Hypertonia Distal amyotrophy Respiratory failure Neutropenia Retinal degeneration Aciduria Abnormality of extrapyramidal motor function Postnatal microcephaly Gowers sign Respiratory insufficiency due to muscle weakness Clonus Respiratory tract infection Recurrent respiratory infections Dementia Achilles tendon contracture Posterior subcapsular cataract Subcapsular cataract Facial palsy Hyperlordosis Neurological speech impairment Absence seizures Hammertoe Decreased nerve conduction velocity Generalized-onset seizure Bilateral sensorineural hearing impairment Sensorimotor neuropathy Progressive muscle weakness Spastic gait EMG abnormality Bradycardia Poor suck Pancreatic hypoplasia Impaired histidine renal tubular absorption Athetosis Leukoencephalopathy Intellectual disability, severe Retinopathy Chorea Pallor Abnormality of the eye Rounded middle phalanx of finger Epilepsia partialis continua Histidinuria Stuttering Hypoplastic toenails Smooth philtrum Thin upper lip vermilion Macrotia Microalbuminuria Long philtrum Developmental stagnation Mitochondrial encephalopathy Weak cry Optic atrophy Increased CSF lactate 3-Methylglutaconic aciduria Dysmetria Anemia Nyctalopia Thrombocytopenia Rod-cone dystrophy Cerebral cortical atrophy Epileptic encephalopathy Type 2 muscle fiber atrophy Flexion contracture Hypsarrhythmia Aminoaciduria Progressive leukoencephalopathy Atrophy/Degeneration affecting the brainstem Diffuse cerebral atrophy Abnormality of the mitochondrion Generalized aminoaciduria Atrophy/Degeneration involving the spinal cord


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