Hearing impairment, and Progressive neurologic deterioration

Diseases related with Hearing impairment and Progressive neurologic deterioration

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

Top matches:

Cobblestone lissencephaly without muscular or ocular involvement is a form of cobblestone lissencephaly characterized by a constellation of brain malformations which can either exist alone or in conjunction with minimal muscular and ocular abnormalities. The clinical features of the disease include severe developmental delay, increased head circumference, hydrocephalus and seizures.

COBBLESTONE LISSENCEPHALY WITHOUT MUSCULAR OR OCULAR INVOLVEMENT Is also known as lissencephaly type 2 without muscular or ocular involvement|lissencephaly type 2 without muscular or eye involvement|cobblestone lissencephaly without muscular or eye involvement

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COBBLESTONE LISSENCEPHALY WITHOUT MUSCULAR OR OCULAR INVOLVEMENT

Mitochondrial DNA depletion syndrome-8A is a severe autosomal recessive disorder characterized by neonatal hypotonia, lactic acidosis, and neurologic deterioration. Renal tubular involvement may also occur (Bourdon et al., 2007).Mitochondrial DNA depletion syndrome-8B is characterized by ophthalmoplegia, ptosis, gastrointestinal dysmotility, cachexia, peripheral neuropathy, and brain MRI changes, known as the MNGIE phenotype (Shaibani et al., 2009).For a discussion of genetic heterogeneity of mtDNA depletion syndromes, see MTDPS1 (OMIM ).

MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM WITH RENAL TUBULOPATHY Is also known as mitochondrial dna depletion syndrome, encephalomyopathic, with renal tubulopathy, autosomal recessive|mtdna depletion syndrome, encephalomyopathic form with renal tubulopathy

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM WITH RENAL TUBULOPATHY

Fatal infantile lactic acidosis with methylmalonic aciduria is a rare neurometabolic disease characterized by infantile onset of severe encephalomyopathy, lactic acidosis and elevated methylmalonic acid urinary excretion. Clinically it manifests with severe psychomotor delay, hypotonia, failure to thrive, feeding difficulties and dystonia. Epilepsy and multiple congenital anomalies may be associated.

FATAL INFANTILE LACTIC ACIDOSIS WITH METHYLMALONIC ACIDURIA Is also known as lactic acidosis, fatal infantile, formerly

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FATAL INFANTILE LACTIC ACIDOSIS WITH METHYLMALONIC ACIDURIA

Other less relevant matches:

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

A rare autosomal recessive inherited syndrome. It is characterized by xeroderma pigmentosum, mental retardation, dwarfism, hypogonadism, and neurologic abnormalities.

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DE SANCTIS-CACCHIONE SYNDROME

Adult-onset autosomal dominant leukodystrophy (ADLD) is a rare slowly progressive neurological disorder involving centralnervous systemdemyelination, leading to autonomic dysfunction,ataxia and mild cognitive impairment.

ADULT-ONSET AUTOSOMAL DOMINANT LEUKODYSTROPHY Is also known as adld|adult-onset autosomal dominant demyelinating leukodystrophy|pelizaeus-merzbacher disease, autosomal dominant or late-onset type, formerly

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Spasticity


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ADULT-ONSET AUTOSOMAL DOMINANT LEUKODYSTROPHY

HSD10 mitochondrial disease most commonly presents as an X-linked neurodegenerative disorder with highly variable severity and age at onset ranging from the neonatal period to early childhood. The features are usually multisystemic, consistent with mitochondrial dysfunction. Some affected males have a severe infantile form associated with cardiomyopathy that may result in death in early childhood, whereas other rare patients may have juvenile onset or even atypical presentations with normal neurologic development. More severely affected males show developmental regression in infancy or early childhood, often associated with early-onset intractable seizures, progressive choreoathetosis and spastic tetraplegia, optic atrophy or retinal degeneration resulting in visual loss, and mental retardation. Heterozygous females may show non-progressive developmental delay and intellectual disability, but may also be clinically normal. Although the diagnosis can be aided by the observation of increased urinary levels of metabolites of isoleucine breakdown (2-methyl-3 hydroxybutyrate and tiglylglycine), there is not a correlation between these laboratory features and the phenotype. In addition, patients do not develop severe metabolic crises in the neonatal period as observed in other organic acidurias, but may show persistent lactic acidosis, most likely reflecting mitochondrial dysfunction (summary by Rauschenberger et al., 2010; review by Zschocke, 2012).In a review of the disorder, Zschocke (2012) noted that although this disorder was originally thought to be an inborn error of branched-chain fatty acid and isoleucine metabolism resulting from decreased HSD17B10 dehydrogenase activity (HSD17B10 'deficiency'), subsequent studies have shown that the HSD17B10 gene product has additional functions and also acts as a component of the mitochondrial RNase P holoenzyme, which is involved in mitochondrial tRNA processing and maturation and ultimately mitochondrial protein synthesis. The multisystemic features of HSD10MD most likely result from the adverse effect of HSD17B10 mutations on mitochondrial function, rather than from the effects on the dehydrogenase activity (see PATHOGENESIS below).

HSD10 MITOCHONDRIAL DISEASE; HSD10MD Is also known as hsd17b10 deficiency|mhbd deficiency|2-methyl-3-hydroxybutyryl-coa dehydrogenase deficiency|camr|mental retardation with chorioathetosis and abnormal behavior|mental retardation, x-linked, syndromic 10|17-beta-hydroxysteroid dehydrogenase x deficiency|chor

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about HSD10 MITOCHONDRIAL DISEASE; HSD10MD

METACHROMATIC LEUKODYSTROPHY, ADULT FORM Is also known as arylsulfatase a deficiency, adult form|mld, adult form

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about METACHROMATIC LEUKODYSTROPHY, ADULT FORM

DLD deficiency is an autosomal recessive metabolic disorder characterized biochemically by a combined deficiency of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), pyruvate dehydrogenase complex (PDC), and alpha-ketoglutarate dehydrogenase complex (KGDC). This is the result of E3 being a common component of all 3 mitochondrial multienzyme complexes. Clinically, affected individuals have lactic acidosis and neurologic deterioration due to sensitivity of the central nervous system to defects in oxidative metabolism. E3 deficiency is often associated with increased urinary excretion of alpha-keto acids, such as pyruvate (summary by Hong et al., 1996). E3 deficiency can also be associated with increased concentrations of branched-chain amino acids, as observed in maple syrup urine disease (MSUD ), and is sometimes referred to as 'MSUD type III,' although patients with E3 deficiency have additional biochemical defects (Chuang and Shih, 2001; Robinson, 2001).

DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY; DLDD Is also known as maple syrup urine disease, type iii|e3 deficiency|lipoamide dehydrogenase deficiency, lactic acidosis due to|dld deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY; DLDD

Leigh syndrome is an early-onset progressive neurodegenerative disorder with a characteristic neuropathology consisting of focal, bilateral lesions in one or more areas of the central nervous system, including the brainstem, thalamus, basal ganglia, cerebellum, and spinal cord. The lesions are areas of demyelination, gliosis, necrosis, spongiosis, or capillary proliferation. Clinical symptoms depend on which areas of the central nervous system are involved. The most common underlying cause is a defect in oxidative phosphorylation (Dahl, 1998).Leigh syndrome may be a feature of a deficiency of any of the mitochondrial respiratory chain complexes: complex I deficiency (OMIM ), complex II deficiency (OMIM ), complex III deficiency (OMIM ), complex IV deficiency (cytochrome c oxidase; {220110}), or complex V deficiency (OMIM ).

LEIGH SYNDROME; LS Is also known as necrotizing encephalopathy, infantile subacute, of leigh|sne

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LEIGH SYNDROME; LS

Top 5 symptoms//phenotypes associated to Hearing impairment and Progressive neurologic deterioration

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Dystonia Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hearing impairment and Progressive neurologic deterioration. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Optic atrophy

Uncommon Symptoms - Between 30% and 50% cases

Dysarthria Encephalopathy Ataxia Lactic acidosis Acidosis Muscle weakness Failure to thrive Spasticity Muscular hypotonia Leukodystrophy Metabolic acidosis Hypoglycemia Mental deterioration Developmental regression Sensorineural hearing impairment Cardiomyopathy Feeding difficulties Urinary incontinence Emotional lability Hallucinations Gait ataxia Hypertrophic cardiomyopathy Intention tremor Gait disturbance Cerebral atrophy Vomiting Nystagmus Tremor Dysphagia Vegetative state Babinski sign Hyporeflexia Neurodegeneration Aciduria Respiratory insufficiency

Rare Symptoms - Less than 30% cases

Abnormality of visual evoked potentials Increased CSF protein Loss of speech Bilateral sensorineural hearing impairment Decreased nerve conduction velocity Frequent falls Clumsiness Bowel incontinence Orthostatic hypotension due to autonomic dysfunction Abdominal distention Reduced visual acuity Delusions Gliosis Progressive gait ataxia Difficulty walking Chorea Rigidity Cerebral cortical atrophy Visual loss Depressivity Peripheral demyelination Intellectual disability, mild Hypertonia Hyperreflexia Tetraparesis Choreoathetosis Microcephaly Short attention span Abnormality of proteoglycan metabolism Punctate periventricular T2 hyperintense foci Abnormality of glycosphingolipid metabolism Blindness Abnormal social behavior Severe lactic acidosis Progressive psychomotor deterioration Spastic tetraparesis Decerebrate rigidity EMG: chronic denervation signs Cholecystitis Progressive peripheral neuropathy Apathy Episodic metabolic acidosis Severe global developmental delay Abnormal cerebellum morphology Paraplegia Unsteady gait Areflexia Peripheral neuropathy Generalized muscle weakness Increased serum lactate Ptosis Incoordination Gastrointestinal dysmotility Abnormality of the cerebral white matter Skeletal muscle atrophy Tetraplegia Muscular hypotonia of the trunk Leukoencephalopathy Spastic tetraplegia Ophthalmoplegia Respiratory failure Abnormality of the nervous system Increased CSF lactate Failure to thrive in infancy Retinal degeneration Dehydration Neurological speech impairment Truncal ataxia Hypertrichosis Optic disc pallor Pigmentary retinopathy Abnormality of eye movement Horizontal nystagmus Abnormality of movement Fatigue Aggressive behavior Respiratory arrest Hepatocellular necrosis Diffuse leukoencephalopathy Autonomic bladder dysfunction Autonomic erectile dysfunction Decreased activity of the pyruvate dehydrogenase complex Cervical spinal cord atrophy Dilatation of the bladder Decreased sweating due to autonomic dysfunction Symmetric peripheral demyelination Asymmetric septal hypertrophy Abnormal pattern of respiration Cognitive impairment Delayed speech and language development CNS demyelination Myopathy Absent speech Myoclonus Abnormality of mitochondrial metabolism Drooling Abnormal mitochondrial morphology Athetosis Abnormality of the liver Opisthotonus Brisk reflexes Poor suck Decreased liver function Hepatic failure Lethargy Attention deficit hyperactivity disorder Elevated hepatic transaminase Polycythemia Abdominal pain Bulbar signs Progressive spastic quadriplegia Atrophy of the spinal cord Neoplasm of the gallbladder Pain Motor delay Hyperactivity Exertional dyspnea Neonatal hypoglycemia Agitation Progressive choreoathetosis Restlessness Mitochondrial myopathy Diffuse cerebral atrophy Loss of ability to walk Pallor Hepatomegaly Persistent lactic acidosis Abnormality of the eye Dementia Hypothermia Abnormal facial shape Memory impairment Schizophrenia Strabismus Recurrent encephalopathy Methemoglobinemia Prolonged prothrombin time Organic aciduria Diffuse white matter abnormalities Melanoma Pseudobulbar paralysis Cachexia Nausea and vomiting Nausea Polyneuropathy Progressive muscle weakness Aminoaciduria External ophthalmoplegia Ragged-red muscle fibers Proximal tubulopathy Weight loss Growth delay Intellectual disability, severe Obesity Hyperhidrosis Abnormality of the skin Shock Hypophosphatemia Muscle fibrillation Neonatal hypotonia Right hemiplegia Necrotizing encephalopathy Encephalocele Cataract Macrocephaly Hydrocephalus Cerebellar hypoplasia Muscular dystrophy Spastic paraplegia Polymicrogyria Coma Heterotopia Gray matter heterotopias Absence seizures Lissencephaly Hemiplegia Hypoplasia of the brainstem Infantile spasms Occipital encephalocele Porencephalic cyst Type II lissencephaly Methylmalonic aciduria Poor motor coordination Neurogenic bladder Spastic paraparesis Progressive cerebellar ataxia Hypotension Hemiparesis Hypohidrosis Limb ataxia Abnormal autonomic nervous system physiology Paraparesis Abnormality of the urinary system Lower limb muscle weakness Personality changes Impotence Urinary urgency Progressive spasticity Orthostatic hypotension Action tremor Heat intolerance Corpus callosum atrophy Confusion Limb muscle weakness Renal aminoaciduria Dermal atrophy Intermittent hyperpnea at rest Cerebellar atrophy Severe short stature Photophobia Leukemia Cutaneous photosensitivity Telangiectasia Conjunctivitis Ectropion Abnormal pyramidal sign Keratitis Acute lymphoblastic leukemia Poikiloderma Olivopontocerebellar atrophy Entropion Defective DNA repair after ultraviolet radiation damage Gonadal hypoplasia Constipation Mitochondrial respiratory chain defects


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