Global developmental delay, and Tetraparesis

Diseases related with Global developmental delay and Tetraparesis

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

Top matches:

Alternating hemiplegia of childhood is a rare syndrome characterized by infantile onset of episodic hemi-or quadriplegia. Most cases are accompanied by dystonic posturing, choreoathetoid movements, abnormal ocular movements, developmental delay, and progressive cognitive impairment (summary by Heinzen et al., 2012).For discussion of genetic heterogeneity of alternating hemiplegia of childhood, see AHC1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ALTERNATING HEMIPLEGIA OF CHILDHOOD 2; AHC2

Benign familial neonatal-infantile seizures (BFNIS) is a benign familial epilepsy syndrome with an intermediate phenotype between benign familial neonatal seizures (BFNS) and benign familial infantile seizures (BFIS; see these terms). So far, this syndrome has been described in multiple members of 10 families. Age of onset in these BFNIS families varied from 2 days to 6 months, with spontaneous resolution in most cases before the age of 12 months. Like BFNS and BFIS, seizures in BFNIS generally occur in clusters over one or a few days with posterior focal seizure onset. BFNIS is caused by mutations in the SCN2A gene (2q24.3), encoding the voltage-gated sodium channel alpha-subunit Na(V)1.2. Transmission is autosomal dominant.

BENIGN FAMILIAL NEONATAL-INFANTILE SEIZURES Is also known as bfnis|benign neonatal-infantile epilepsy

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about BENIGN FAMILIAL NEONATAL-INFANTILE SEIZURES

PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, AUTOSOMAL RECESSIVE; ARPHM Is also known as heterotopia, periventricular, autosomal recessive|periventricular nodular heterotopia 2|pvnh2

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, AUTOSOMAL RECESSIVE; ARPHM

Other less relevant matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE; MCPH15

METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY Is also known as saposin b deficiency|metachromatic leukodystrophy due to cerebroside sulfatase activator deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Muscular hypotonia


SOURCES: MESH OMIM MENDELIAN

More info about METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY

Sialic acid storage diseases are autosomal recessive neurodegenerative disorders that may present as a severe infantile form (ISSD) or as a slowly progressive adult form that is prevalent in Finland (Salla disease). The main symptoms are hypotonia, cerebellar ataxia, and mental retardation; visceromegaly and coarse features are also present in the infantile cases. Progressive cerebellar atrophy and dysmyelination have been documented by MRI. Enlarged lysosomes are seen on electron microscopic studies, and patients excrete large amounts of free sialic acid in the urine (Verheijen et al., 1999).

FREE SIALIC ACID STORAGE DISEASE, INFANTILE FORM Is also known as issd|sialuria, finnish type

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about FREE SIALIC ACID STORAGE DISEASE, INFANTILE FORM

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62; EIEE62

Early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy (PEBEL) is an autosomal recessive severe neurometabolic disorder characterized by rapidly progressive neurologic deterioration that is usually associated with a febrile illness. Affected infants tend to show normal early development followed by acute psychomotor regression with ataxia, hypotonia, respiratory insufficiency, and seizures, resulting in coma and death in the first years of life. Brain imaging shows multiple abnormalities, including brain edema and signal abnormalities in the cortical and subcortical regions (summary by Kremer et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY; PEBEL

Pontocerebellar hypoplasia type 1C is a severe autosomal recessive neurodegenerative disorder characterized by severe muscle weakness and failure to thrive apparent in the first months of life. Affected infants showed delayed psychomotor development, often with visual and hearing impairment, and may die of respiratory failure. Brain imaging typically shows cerebellar hypoplasia, hypoplasia of the corpus callosum, and immature myelination (summary by Boczonadi et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A (OMIM ).

PONTOCEREBELLAR HYPOPLASIA, TYPE 1C; PCH1C Is also known as hypomyelination with spinal muscular atrophy and cerebellar hypoplasia

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Failure to thrive
  • Muscle weakness
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 1C; PCH1C

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE; MCPH20

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

Symptoms // Phenotype % cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Spastic tetraparesis Common - Between 50% and 80% cases
Hypoplasia of the corpus callosum Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly Intellectual disability, severe Ataxia Nystagmus Absent speech Hypsarrhythmia Dystonia Failure to thrive Inability to walk Cerebellar hypoplasia Dysarthria

Rare Symptoms - Less than 30% cases

Progressive microcephaly Epileptic encephalopathy Spastic tetraplegia Respiratory failure Strabismus Hyperreflexia Abnormality of the cerebral white matter Muscle weakness Muscular hypotonia Encephalopathy Growth delay Severe global developmental delay Feeding difficulties Blindness Dysphagia Developmental regression Mental deterioration Rigidity Tetraplegia Cognitive impairment Generalized tonic-clonic seizures Hemiparesis Vacuolated lymphocytes Edema Exotropia Progressive neurologic deterioration Increased serum lactate Brain atrophy Coma Lactic acidosis Athetosis Thickened calvaria Cerebral atrophy Respiratory insufficiency Oligosacchariduria Tremor Headache Progressive encephalopathy Cerebral visual impairment Polymicrogyria Depressivity Visceromegaly Anxiety Aspartylglucosaminuria Leukoencephalopathy Intellectual disability, mild Clumsiness Microphthalmia Hyperechogenic kidneys Cortical gyral simplification Optic nerve hypoplasia Delayed gross motor development Renal hypoplasia Poor speech Abnormality of the foot Neurological speech impairment Attention deficit hyperactivity disorder Aggressive behavior Hyperactivity Short stature Cerebral edema Spinal muscular atrophy Cerebellar vermis hypoplasia Cerebral cortical atrophy Visual impairment Flexion contracture Hearing impairment Cerebellar edema Encephalomalacia Infantile encephalopathy Skin erosion Vegetative state Myelopathy Increased CSF lactate Coarse facial features Progressive cerebellar ataxia Recurrent infections Migraine Ventriculomegaly Talipes equinovarus Generalized-onset seizure Periventricular gray matter heterotopia Epileptic spasms Poor eye contact Infantile spasms Status epilepticus Heterotopia Choreoathetosis Upslanted palpebral fissure Abnormal myelination Myokymia Abnormal autonomic nervous system physiology Hemiplegia Loss of consciousness Episodic quadriplegia Dysmetria Intellectual disability, moderate Muscular hypotonia of the trunk Abnormality of the nervous system EEG abnormality Chorea Parkinsonism Myoclonus Decreased nerve conduction velocity Abnormality of metabolism/homeostasis Cerebellar atrophy Abnormality of the skeletal system Delayed speech and language development Spasticity Abnormality of the eye Spastic hemiparesis CNS demyelination Motor deterioration Loss of speech Abnormality of the periventricular white matter Leukodystrophy Spastic gait Peripheral demyelination Urinary incontinence Polyneuropathy Gait ataxia Babinski sign Hyporeflexia Abnormality of eye movement Peripheral neuropathy Abnormality of movement Cerebral white matter hypoplasia Hypoplasia of the brainstem Small cerebral cortex


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