Global developmental delay, and Neurodegeneration

Diseases related with Global developmental delay and Neurodegeneration

In the following list you will find some of the most common rare diseases related to Global developmental delay and Neurodegeneration that can help you solving undiagnosed cases.

Top matches:

Spastic ataxia-8 with hypomyelinating leukodystrophy is an autosomal recessive progressive neurodegenerative disorder characterized by onset of primarily motor dysfunction within the first year of life. Affected individuals initially have hypotonia and later develop ataxia, spasticity, and a pyramidal syndrome with weakness and loss of ambulation. Other features may include dystonia, dysarthria, and abnormal eye movements. Brain imaging shows cerebellar atrophy and hypomyelinating leukodystrophy. One family with cognitive impairment has also been reported (summary by Chelban et al., 2017).For a discussion of genetic heterogeneity of spastic ataxia, see SPAX1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY; SPAX8

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4; EIEE4

Congenital cataract-hearing loss-severe developmental delay syndrome is a rare, genetic, lethal, neurometabolic disease characterized by congenital cataracts, sensorineural hearing loss, severe psychomotor developmental delay, severe, generalized muscular hypotonia, and central nervous system abnormalities (incl. cerebellar and cerebral hypoplasia, hypomyelination, wide subarachnoid spaces), in the presence of low serum copper and ceruloplasmin. Nystagmus and seizures have also been reported.

CONGENITAL CATARACT-HEARING LOSS-SEVERE DEVELOPMENTAL DELAY SYNDROME Is also known as congenital cataract-deafness-severe developmental delay syndrome|lethal neurodegenerative disorder due to copper transport defect

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL CATARACT-HEARING LOSS-SEVERE DEVELOPMENTAL DELAY SYNDROME

Other less relevant matches:

Beta-propeller protein-associated neurodegeneration (BPAN), also known as static encephalopathy of childhood with neurodegeneration in adulthood, is a rare form of neurodegeneration with brain iron accumulation (NBIA) characterized by early-onset developmental delay and further neurological deterioration in early adulthood.

BETA-PROPELLER PROTEIN-ASSOCIATED NEURODEGENERATION Is also known as senda|beta-propeller protein-associated neurodegeneration|static encephalopathy of childhood with neurodegeneration in adulthood|bpan|neurodegeneration with brain iron accumulation type 5|nbia5|static encephalopathy of childhood with neurdegeneration in a

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Spasticity
  • Dysarthria


SOURCES: OMIM ORPHANET MENDELIAN

More info about BETA-PROPELLER PROTEIN-ASSOCIATED NEURODEGENERATION

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

Stress-induced childhood-onset neurodegeneration with variable ataxia and seizures (CONDSIAS) is an autosomal recessive neurodegenerative disorder with onset in the first years of life following normal early development. Patient have cyclic episodic deterioration in response to stress, such as infection or febrile illness. The severity is highly variable: some patients develop seizures early in life that are associated with loss of developmental milestones and early sudden death in childhood, whereas others present at a later age with muscle weakness, gait ataxia, impaired speech, more subtle clinical deterioration, and cognitive decline. Neurologic involvement includes gait ataxia, cerebellar signs associated with cerebellar atrophy, generalized brain atrophy, impaired intellectual development, hearing loss, and peripheral neuropathy (summary by Ghosh et al., 2018).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES; CONDSIAS

Mitochondrial short-chain enoyl-CoA hydratase-1 deficiency is an autosomal recessive inborn error of metabolism characterized by severely delayed psychomotor development, neurodegeneration, increased lactic acid, and brain lesions in the basal ganglia (summary by Peters et al., 2014).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY; ECHS1D

High match CLN7 DISEASE

The neuronal ceroid lipofuscinoses (NCL, or CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally (summary by Mole et al., 2005).For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Ataxia
  • Delayed speech and language development
  • Visual impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CLN7 DISEASE

Mitochondrial complex III deficiency, nuclear type 8, is an autosomal recessive disorder characterized by progressive neurodegeneration with onset in childhood. Affected individuals may have normal or delayed early development, and often have episodic acute neurologic decompensation and regression associated with febrile illnesses. The developmental regression results in variable intellectual disability and motor deficits, such as hypotonia, axial hypertonia, and spasticity; some patients may lose the ability to walk independently. Laboratory studies show increased serum lactate and isolated deficiency of mitochondrial complex III in skeletal muscle and fibroblasts. Brain imaging shows a characteristic pattern of multifocal small cystic lesions in the periventricular and deep cerebral white matter (summary by Dallabona et al., 2016).For a discussion of genetic heterogeneity of mitochondrial complex III deficiency, see MC3DN1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8; MC3DN8

Autosomal recessive spastic paraplegia type 75 is a rare, complex hereditary spastic paraplegia characterized by an early onset and slow progression of spastic paraplegia associated with cerebellar signs, nystagmus, peripheral neuropathy, extensor plantar responses and borderline to mild intellectual disability. Additional features of hypo- or areflexia, mild upper limb involvement and significant visual impairment (optic atrophy, vision loss, astigmatism) have been reported.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 75 Is also known as spg75

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Nystagmus
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 75

Top 5 symptoms//phenotypes associated to Global developmental delay and Neurodegeneration

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Nystagmus Common - Between 50% and 80% cases
Cerebellar atrophy Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Global developmental delay and Neurodegeneration. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Cerebral atrophy Spasticity Dysarthria Dystonia Tremor Abnormality of eye movement Optic atrophy Developmental regression Mental deterioration Ataxia Hearing impairment Spastic paraplegia Paraplegia Severe global developmental delay Encephalopathy Absent speech Hypoplasia of the corpus callosum Gait disturbance Abnormal cerebellum morphology Abnormality of the cerebral white matter Abnormality of the eye

Rare Symptoms - Less than 30% cases

Abnormality of extrapyramidal motor function Hypertonia Increased serum lactate Rigidity Aggressive behavior External ophthalmoplegia Sleep disturbance Dysmetria Leukoencephalopathy Ophthalmoplegia Respiratory failure Paraparesis Babinski sign Peripheral neuropathy Muscle weakness Spastic paraparesis Cataract Progressive neurologic deterioration Cognitive impairment Leukodystrophy Hypometric saccades Titubation Tetraplegia Generalized myoclonic seizures Spastic tetraplegia Abnormal pyramidal sign CNS hypomyelination Hyperreflexia Tongue fasciculations Vegetative state Loss of speech Postural tremor Pigmentary retinopathy Memory impairment Focal-onset seizure Nevus Neurological speech impairment Retinopathy EEG abnormality Developmental stagnation Myoclonus Rod-cone dystrophy Ventricular septal defect Visual loss Multifocal seizures Blindness Intracellular accumulation of autofluorescent lipopigment storage material Visual impairment Delayed speech and language development Decreased activity of the pyruvate dehydrogenase complex Vertical nystagmus Increased CSF lactate Poor suck Motor delay Apnea Cardiomyopathy Vacuolated lymphocytes Epileptic spasms Failure to thrive Clonus Difficulty walking Neonatal hypotonia Intellectual disability, moderate Hypermetropia Astigmatism Spastic gait Impaired vibratory sensation Glaucoma Distal lower limb amyotrophy Corpus callosum atrophy Spastic dysarthria Areflexia of lower limbs Hyporeflexia of lower limbs Impaired distal vibration sensation Reduced visual acuity Hyporeflexia Anemia Optic disc pallor Hypoventilation Dyspnea Acidosis Irritability Lethargy Lactic acidosis Tetraparesis Areflexia Exotropia Spastic tetraparesis Failure to thrive in infancy Stridor Brisk reflexes Abnormality of the periventricular white matter Ventriculomegaly Mild global developmental delay Brain atrophy Axonal loss Dementia Intellectual disability, severe Cerebral cortical atrophy Abnormal autonomic nervous system physiology Stereotypy Broad-based gait Generalized tonic-clonic seizures Bradykinesia Neuronal loss in central nervous system Gliosis Parkinsonism Dyskinesia Abnormality of movement Poor speech Epileptic encephalopathy Dysphagia Frontal release signs Hypsarrhythmia Intellectual disability, profound Decreased serum ceruloplasmin Hypocupremia Rotary nystagmus Cerebellar vermis hypoplasia Dandy-Walker malformation Neutropenia Congenital cataract Status epilepticus EEG with burst suppression Impaired horizontal smooth pursuit Infantile encephalopathy Cerebral hypomyelination Progressive encephalopathy Iron accumulation in brain Global brain atrophy Infantile spasms Fasciculations Generalized tonic seizures Polyneuropathy Limb ataxia Gait ataxia Truncal ataxia Limb dystonia Spastic ataxia Strabismus Right hemiplegia Gray matter heterotopias Type II lissencephaly Porencephalic cyst Occipital encephalocele Hypoplasia of the brainstem Iron accumulation in substantia nigra Hemiplegia Lissencephaly Absence seizures Heterotopia Encephalocele Head titubation Coma Polymicrogyria Fever Muscular dystrophy Cerebellar hypoplasia Hydrocephalus Macrocephaly Muscular hypotonia Temporal optic disc pallor


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