Dysarthria, and Agenesis of corpus callosum

Diseases related with Dysarthria and Agenesis of corpus callosum

In the following list you will find some of the most common rare diseases related to Dysarthria and Agenesis of corpus callosum that can help you solving undiagnosed cases.

Top matches:

Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia.

SPINOCEREBELLAR ATAXIA TYPE 23 Is also known as sca23

Related symptoms:

  • Ataxia
  • Peripheral neuropathy
  • Hyperreflexia
  • Dysarthria
  • Tremor


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 23

Autosomal recessive spastic paraplegia type 69 is a rare, complex hereditary spastic paraplegia disorder characterized by infantile onset of progressive lower limb spasticity, global developmental delay, hyperreflexia, clonus and extensor plantar reflexes, associated with dysarthria, intellectual disability, cataracts and hearing impairment.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 69 Is also known as spg69

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Cataract
  • Intellectual disability, mild
  • Agenesis of corpus callosum


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 69

Autosomal recessive spinocerebellar ataxia-17 is a neurologic disorder characterized by onset of gait ataxia and cerebellar signs in early childhood. Patients also have variable intellectual disability (summary by Evers et al., 2016).

AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA DUE TO CWF19L1 DEFICIENCY Is also known as scar17|spinocerebellar ataxia autosomal recessive type 17

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA DUE TO CWF19L1 DEFICIENCY

Other less relevant matches:

Lissencephaly ('smooth brain') results from migrational arrest of cortical neurons short of their normal destination, and can result in profound mental retardation and seizures. In X-linked lissencephaly-1, affected males generally have more a severe phenotype compared to females. DCX mutations cause classic lissencephaly with mental retardation in hemizygous males and a milder phenotype known as subcortical band heterotopia in females, sometimes in the same family. The subcortical lamina heterotopia found in heterozygous females is also referred to as 'double cortex' (DC) syndrome (des Portes et al., 1997).There are several X-linked loci that affect neuronal migration, including the Aicardi locus (OMIM ).

LISSENCEPHALY, X-LINKED, 1; LISX1 Is also known as xlis|lissencephaly and agenesis of corpus callosum

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about LISSENCEPHALY, X-LINKED, 1; LISX1

Combined oxidative phosphorylation defect type 24 is a rare mitochondrial oxidative phosphorylation disorder characterized by variable phenotype, including developmental delay with psychomotor regression, intellectual disability, epilepsy, Leigh syndrome, non-syndromic hearing loss, visual impairment and severe myopathy. Decreased activity of mitochondrial respiratory complexes and lactic acidosis are common findings, and diffuse cerebral atrophy may be associated.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 24 Is also known as coxpd24

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 24

High match ALG6-CDG

ALG6-CDG is a form of congenital disorders of N-linked glycosylation characterized by feeding problems, mild-to-moderate neurologic involvement with hypotonia, poor head control, developmental delay, ataxia, strabismus, and seizures, ranging from febrile convulsions to epilepsy. Retinal degeneration has also been reported. A minority of patients show other manifestations, particularly intestinal (such as protein-losing enteropathy) and liver involvement. The disease is caused by loss of function mutations of the gene ALG6 (1p31.3).

ALG6-CDG Is also known as cdg1c|cdg ic|cdgs5, formerly|cdg-ic|carbohydrate-deficient glycoprotein syndrome, type i, with deficient glycosylation of dolichol-linked oligosaccharide, formerly|cdgic|congenital disorder of glycosylation type 1c|carbohydrate-deficient glycoprotein synd

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about ALG6-CDG

PCH11 is an autosomal recessive neurodevelopmental disorder characterized by severely delayed psychomotor development with intellectual disability and poor speech, microcephaly, dysmorphic features, and pontocerebellar hypoplasia on brain imaging. Additional features are more variable (summary by Marin-Valencia et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 11; PCH11

BILATERAL GENERALIZED POLYMICROGYRIA Is also known as pmgys|polymicrogyria with seizures

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about BILATERAL GENERALIZED POLYMICROGYRIA

Hereditary spastic paraplegia (SPG or HSP) is characterized by progressive weakness and spasticity of the lower limbs due to degeneration of corticospinal axons. SPG11 is a form of complicated SPG, in that it has neurologic features in addition to spasticity.For a discussion of genetic heterogeneity of autosomal recessive SPG, see SPG5A (OMIM ).

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 11 Is also known as spastic paraplegia-intellectual disability-thin corpus callosum syndrome|nakamura-osame syndrome|spastic paraplegia, autosomal recessive, with mental impairment and thin corpus callosum|spastic paraplegia, autosomal recessive, complicated, with thin corpu

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 11

Genetic defects in the pyruvate dehydrogenase complex are one of the most common causes of primary lactic acidosis in children. Most cases are caused by mutation in the E1-alpha subunit gene on the X chromosome. X-linked PDH deficiency is one of the few X-linked diseases in which a high proportion of heterozygous females manifest severe symptoms. The clinical spectrum of PDH deficiency is broad, ranging from fatal lactic acidosis in the newborn to chronic neurologic dysfunction with structural abnormalities in the central nervous system without systemic acidosis (Robinson et al., 1987; Brown et al., 1994). Genetic Heterogeneity of Pyruvate Dehydrogenase Complex DeficiencyPDH deficiency can also be caused by mutation in other subunits of the PDH complex, including a form (PDHXD ) caused by mutation in the component X gene (PDHX ) on chromosome 11p13; a form (PDHBD ) caused by mutation in the PDHB gene (OMIM ) on chromosome 3p14; a form (PDHDD ) caused by mutation in the DLAT gene (OMIM ) on chromosome 11q23; a form (PDHPD ) caused by mutation in the PDP1 gene (OMIM ) on chromosome 8q22; and a form (PDHLD ) caused by mutation in the LIAS gene (OMIM ) on chromosome 4p14.

PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY; PDHAD Is also known as ataxia, intermittent, with pyruvate dehydrogenase deficiency|pyruvate decarboxylase deficiency|pdh deficiency|ataxia with lactic acidosis i|ataxia, intermittent, with abnormal pyruvate metabolism|pyruvate dehydrogenase complex deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY; PDHAD

Top 5 symptoms//phenotypes associated to Dysarthria and Agenesis of corpus callosum

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Dysarthria and Agenesis of corpus callosum. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Spasticity

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability, severe Generalized hypotonia Cerebral cortical atrophy Cerebellar atrophy Cerebral atrophy Intellectual disability, mild Tremor Skeletal muscle atrophy Muscular hypotonia Hyperreflexia Strabismus Babinski sign Heterotopia Motor delay Ptosis Dysmetria Abnormal pyramidal sign Nystagmus Growth delay Delayed speech and language development

Rare Symptoms - Less than 30% cases

Pachygyria Sloping forehead Bulbous nose Muscular hypotonia of the trunk Lissencephaly Muscle weakness Abnormal facial shape Blindness Metabolic acidosis Acidosis Dysphagia Cognitive impairment Poor speech Ventriculomegaly Dilatation Abnormality of the nervous system Hyperactivity Paralysis Hypoplasia of the corpus callosum Peripheral neuropathy Brain atrophy Partial agenesis of the corpus callosum Broad-based gait Hypermetropia Areflexia CNS hypomyelination Spastic tetraparesis Cerebral visual impairment Tetraparesis Mild microcephaly Increased serum lactate Wide nasal bridge Polyneuropathy Clumsiness Abnormality of movement Intellectual disability, moderate Neuronal loss in central nervous system Hearing impairment Gait ataxia Intention tremor Sensorimotor neuropathy Cerebellar hypoplasia Limb ataxia Dystonia Abnormality of eye movement Sensory neuropathy Lower limb spasticity Progressive spastic paraplegia Impaired vibration sensation in the lower limbs Pes cavus Paresthesia Lower limb muscle weakness Paraplegia Distal amyotrophy Retinal degeneration Peripheral axonal neuropathy Urinary incontinence Sensory impairment Specific learning disability Involuntary movements Decreased activity of the pyruvate dehydrogenase complex Spastic gait Flared nostrils Muscle stiffness Paraparesis Spastic paraparesis Congenital lactic acidosis Coma Abnormality of the cerebral white matter Duodenal atresia Severe short stature EEG abnormality Craniosynostosis Polymicrogyria Unilateral renal agenesis Mild short stature Multiple joint contractures Ectopic kidney Severe failure to thrive Cardiorespiratory arrest Abnormal corpus callosum morphology Spastic paraplegia Abnormality of the spinal cord Gray matter heterotopias Short corpus callosum Pain Basal ganglia cysts Visual impairment Gait disturbance Obesity Macular degeneration Mental deterioration Chronic lactic acidosis Hyperalaninemia Axonal degeneration Reduced tendon reflexes Hyperammonemia Hyperventilation Hypospadias Knee clonus Demyelinating sensory neuropathy Central hypotonia Distal peripheral sensory neuropathy Temporal cortical atrophy Infantile spasms Frontal bossing Global brain atrophy Tachypnea Progressive spastic paraparesis Choreoathetosis Spastic tetraplegia Anteverted nares Long philtrum Encephalopathy Pneumonia Tetraplegia Respiratory failure Small for gestational age Lethargy Ophthalmoplegia Tip-toe gait Upper limb spasticity Aplasia/Hypoplasia of the corpus callosum Ankle clonus Oral-pharyngeal dysphagia Urinary urgency Olivopontocerebellar atrophy Lactic acidosis Broad philtrum Gaze-evoked nystagmus Severe lactic acidosis Episodic ataxia Lower limb hyperreflexia Breech presentation Increased CSF lactate Decreased number of peripheral myelinated nerve fibers Degeneration of the lateral corticospinal tracts Axonal loss Abnormality of the periventricular white matter Short attention span Overweight Urinary bladder sphincter dysfunction Corpus callosum atrophy Preeclampsia Motor polyneuropathy Mild global developmental delay Ketosis Saccadic smooth pursuit Thenar muscle atrophy Increased serum testosterone level Absent speech Severe global developmental delay Hemivertebrae Oculomotor apraxia Infantile muscular hypotonia Slurred speech Nonprogressive cerebellar ataxia Thoracic hemivertebrae Monotonic speech Abnormality of the distal phalanx of the thumb Micropenis Postnatal growth retardation Narrow forehead Truncal ataxia Intellectual disability, profound Spontaneous abortion Abnormality of neuronal migration Microphallus Agyria Type I lissencephaly Subependymal nodules Feeding difficulties Optic atrophy Myopathy Horizontal nystagmus Frequent falls Proximal muscle weakness Kinetic tremor Dementia Progressive cerebellar ataxia Peripheral demyelination Impaired vibratory sensation Cerebellar vermis atrophy Action tremor Slow saccadic eye movements Head tremor Impaired proprioception CNS demyelination Impaired distal vibration sensation Cerebellar vermis hypoplasia Cataract Hand tremor Spastic dysarthria Abnormal myelination Aplasia/Hypoplasia of the cerebellar vermis Synophrys Unsteady gait Falls Thick eyebrow Abnormal cerebellum morphology Apraxia Elevated serum creatine phosphokinase Facial palsy Intrauterine growth retardation Dandy-Walker malformation Difficulty walking Respiratory tract infection Protruding ear Coloboma Attention deficit hyperactivity disorder Talipes Anal atresia Inability to walk Generalized muscle weakness Esotropia Progressive neurologic deterioration Hyporeflexia Stereotypy Molar tooth sign on MRI Poor eye contact Poor coordination Impaired social interactions Happy demeanor Short stature Failure to thrive Cryptorchidism Flexion contracture Recurrent respiratory infections Hypertonia Neurodegeneration Recurrent infections Gliosis Generalized-onset seizure Progressive microcephaly Ragged-red muscle fibers Glomerulosclerosis Focal segmental glomerulosclerosis Mildly elevated creatine phosphokinase Opisthotonus Metabolic alkalosis Edema Hypoglycemia Talipes equinovarus Hepatic failure Abnormal intestine morphology Polycystic ovaries Alopecia of scalp Hyperinsulinemic hypoglycemia Protein-losing enteropathy Type I transferrin isoform profile Frontal balding Reduced antithrombin III activity Reduced factor XI activity Elevated serum transaminases during infections Apneic episodes precipitated by illness, fatigue, stress


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