Delayed speech and language development, and Progressive neurologic deterioration

Diseases related with Delayed speech and language development and Progressive neurologic deterioration

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


Top matches:

Medium match HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A; HPABH4A

Tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) comprises a genetically heterogeneous group of progressive neurologic disorders caused by autosomal recessive mutations in the genes encoding enzymes involved in the synthesis or regeneration of BH4. BH4 is a cofactor for phenylalanine hydroxylase (PAH ), tyrosine hydroxylase (TH ) and tryptophan hydroxylase (TPH1 ), the latter 2 of which are involved in neurotransmitter synthesis. The BH4-deficient HPAs are characterized phenotypically by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits (Dudesek et al., 2001).HPABH4A, caused by mutations in the PTS gene, represents the most common cause of BH4-deficient hyperphenylalaninemia (Dudesek et al., 2001). Other forms of BH4-deficient HPA include HPABH4B (OMIM ), caused by mutation in the GCH1 gene (OMIM ), HPABH4C (OMIM ), caused by mutation in the QDPR gene (OMIM ), and HPABH4D (OMIM ), caused by mutation in the PCBD1 gene (OMIM ). Niederwieser et al. (1982) noted that about 1 to 3% of patients with hyperphenylalaninemia have one of these BH4-deficient forms. These disorders are clinically and genetically distinct from classic phenylketonuria (PKU ), caused by mutation in the PAH gene.Two additional disorders associated with BH4 deficiency and neurologic symptoms do not have overt hyperphenylalaninemia as a feature: dopa-responsive dystonia (OMIM ), caused by mutation in the SPR gene (OMIM ), and autosomal dominant dopa-responsive dystonia (DYT5 ), caused by mutation in the GCH1 gene. Patients with these disorders may develop hyperphenylalaninemia when stressed.

HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A; HPABH4A Is also known as hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to pts deficiency, 6-pyruvoyl-tetrahydropterin synthase deficiency, pts deficiency;hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: NCIT OMIM ORPHANET MONDO DOID MESH GARD UMLS

More info about HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A; HPABH4A

Medium match KOHLSCHUTTER-TONZ SYNDROME; KTZS

Kohlschutter-Tonz syndrome is an autosomal recessive disorder characterized by severe global developmental delay, early-onset intractable seizures, spasticity, and amelogenesis imperfecta affecting both primary and secondary teeth and causing yellow or brown discoloration of the teeth. Although the phenotype is consistent, there is variability. Intellectual disability is related to the severity of seizures, and the disorder can thus be considered an epileptic encephalopathy. Some infants show normal development until seizure onset, whereas others are delayed from birth. The most severely affected individuals have profound mental retardation, never acquire speech, and become bedridden early in life (summary by Schossig et al., 2012 and Mory et al., 2012).

KOHLSCHUTTER-TONZ SYNDROME; KTZS Is also known as epilepsy and yellow teeth, epilepsy, dementia, and amelogenesis imperfecta, kohlschutter syndrome;epilepsy-dementia-amelogenesis imperfecta syndrome; kohlschutter-tonz syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: MESH OMIM GARD SCTID MONDO ORPHANET UMLS

More info about KOHLSCHUTTER-TONZ SYNDROME; KTZS

Medium match PITT-HOPKINS-LIKE SYNDROME 1; PTHSL1

Cortical dysplasia-focal epilepsy syndrome is a rare genetic epilepsy characterized by relatively large head circumference or macrocephaly, diminished or absent deep-tendon reflexes and mild gross motor delay in infancy, followed by intractable focal seizures with language regression, behavioral abnormalities (hyperactivity, attention deficit, aggressive/autoaggressive behavior, autistic features) and intellectual disability later in life.

PITT-HOPKINS-LIKE SYNDROME 1; PTHSL1 Is also known as cortical dysplasia-focal epilepsy syndrome;cdfes;cdfe syndrome; cdfes

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Pica


SOURCES: OMIM ORPHANET UMLS

More info about PITT-HOPKINS-LIKE SYNDROME 1; PTHSL1

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Other less relevant matches:

Medium match LEUKODYSTROPHY, HYPOMYELINATING, 3; HLD3

Autosomal recessive hypomyelinating leukodystrophy-3 (HLD3) is a severe neurologic disorder characterized by early infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associated with decreased myelination in the central nervous system (summary by Feinstein et al., 2010).The disorder is phenotypically similar to X-linked Pelizaeus-Merzbacher disease (PMD ), which is caused by mutation in the PLP1 gene (OMIM ). For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see {312080}.

LEUKODYSTROPHY, HYPOMYELINATING, 3; HLD3 Is also known as ;

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: GARD DOID ORPHANET MONDO OMIM UMLS MESH

More info about LEUKODYSTROPHY, HYPOMYELINATING, 3; HLD3

Medium match LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM

Vanishing white matter leukodystrophy is an autosomal recessive neurologic disorder characterized by variable neurologic features, including progressive cerebellar ataxia, spasticity, and cognitive impairment associated with white matter lesions on brain imaging. The age at onset can range from early infancy to adulthood. Rapid neurologic deterioration can occur following minor head trauma. Female mutation carriers may develop ovarian failure, manifest as primary amenorrhea or as secondary amenorrhea lasting more than 6 months, associated with elevated gonadotropin levels at age less than 40 years (summary by Van der Knaap et al., 1998 and Schiffmann et al., 1997).

LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM Is also known as childhood ataxia with central nervous system hypomyelinization;cach, vanishing white matter leukodystrophy, cree leukoencephalopathy;cle

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Generalized hypotonia
  • Pica
  • Ataxia


SOURCES: ORPHANET OMIM

More info about LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM

Medium match HSD10 MITOCHONDRIAL DISEASE; HSD10MD

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, 17-beta-hydroxysteroid dehydrogenase x deficiency, 3-hydroxyacyl-coa dehydrogenase ii deficiency, 2-methyl-3-hydroxybutyryl-coa dehydrogenase deficiency, mhbd deficiency, mental retardation, x-linked, syndromic 10;mrxs10, chorioathetosis with mental retardation and abnormal behavior;camr, mental retardation with chorioathetosis and abnormal behavior

Related symptoms:

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


SOURCES: SCTID ORPHANET UMLS OMIM

More info about HSD10 MITOCHONDRIAL DISEASE; HSD10MD

Medium match ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY; PELD

Progressive encephalopathy with or without lipodystrophy is a severe neurodegenerative disorder characterized by developmental regression of motor and cognitive skills in the first years of life, often leading to death in the first decade. Patients may show a mild or typical lipodystrophic appearance (summary by Guillen-Navarro et al., 2013).

ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY; PELD Is also known as ;severe neurodegenerative syndrome due to bscl2 deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Ataxia
  • Motor delay


SOURCES: ORPHANET OMIM MONDO UMLS

More info about ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY; PELD

Medium match AICARDI-GOUTIERES SYNDROME 7; AGS7

Aicardi-Goutieres syndrome-7 is an autosomal dominant inflammatory disorder characterized by severe neurologic impairment. Most patients present in infancy with delayed psychomotor development, axial hypotonia, spasticity, and brain imaging changes, including basal ganglia calcification, cerebral atrophy, and deep white matter abnormalities. Laboratory evaluation shows increased alpha-interferon (IFNA1 ) activity with upregulation of interferon signaling and interferon-stimulated gene expression. Some patients may have normal early development followed by episodic neurologic regression (summary by Rice et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of Aicardi-Goutieres syndrome, see AGS1 (OMIM ).

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: UMLS MONDO OMIM

More info about AICARDI-GOUTIERES SYNDROME 7; AGS7

Medium match HUNTINGTON DISEASE; HD

Huntington disease (HD) is an autosomal dominant progressive neurodegenerative disorder with a distinct phenotype characterized by chorea, dystonia, incoordination, cognitive decline, and behavioral difficulties. There is progressive, selective neural cell loss and atrophy in the caudate and putamen. Walker (2007) provided a detailed review of Huntington disease, including clinical features, population genetics, molecular biology, and animal models.

HUNTINGTON DISEASE; HD Is also known as huntington chorea;huntington chorea

Related symptoms:

  • Autosomal dominant inheritance
  • Seizures
  • Pica
  • Ataxia
  • Cognitive impairment


SOURCES: ORPHANET OMIM UMLS ICD10 SCTID

More info about HUNTINGTON DISEASE; HD

Medium match MUCOPOLYSACCHARIDOSIS, TYPE IIIA; MPS3A

The Sanfilippo syndrome, or mucopolysaccharidosis III, is an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate (Esposito et al., 2000). The disorder is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life. Type A has been reported (van de Kamp et al., 1981) to be the most severe, with earlier onset and rapid progression of symptoms and shorter survival. Genetic Heterogeneity of Mucopolysaccharidosis Type IIIMPS III includes 4 types, each due to the deficiency of a different enzyme: heparan N-sulfatase (type A); alpha-N-acetylglucosaminidase (type B; {252920}); acetyl CoA:alpha-glucosaminide acetyltransferase (type C; {252930}); and N-acetylglucosamine 6-sulfatase (type D; {252940}).

MUCOPOLYSACCHARIDOSIS, TYPE IIIA; MPS3A Is also known as mps iiia, sanfilippo syndrome a, heparan sulfate sulfatase deficiency, sulfamidase deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment


SOURCES: OMIM NCIT

More info about MUCOPOLYSACCHARIDOSIS, TYPE IIIA; MPS3A

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Progressive neurologic deterioration

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Developmental regression Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Spasticity Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Delayed speech and language development and Progressive neurologic deterioration. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Ataxia

Uncommon Symptoms - Between 30% and 50% cases


Cerebral atrophy

Common Symptoms - More than 50% cases


Autosomal recessive inheritance

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Motor delay Absent speech Dystonia Mental deterioration Clonus Dementia Gliosis Encephalopathy Hyperactivity Tetraparesis Coarse facial features Restlessness Tics Hyperreflexia Myoclonus Pica Microcephaly Tremor Rigidity Spastic tetraparesis EEG abnormality Dysarthria Nevus Gait disturbance Abnormal pyramidal sign Muscular hypotonia Brain atrophy Failure to thrive Dysphagia Muscular hypotonia of the trunk Intellectual disability, severe Cerebral cortical atrophy Chorea Focal seizures Irritability Hepatomegaly Cognitive impairment Aggressive behavior Hypsarrhythmia Neuronal loss in central nervous system Gait ataxia

Rare Symptoms - Less than 30% cases


Neurological speech impairment Progressive Abnormality of eye movement Hyperventilation Nystagmus Behavioral abnormality Vomiting Sleep disturbance Splenomegaly Personality changes Cerebellar atrophy Hypertension Spastic tetraplegia Abnormality of movement Myopathy Macrocephaly Progressive encephalopathy Mania Autosomal dominant inheritance Abnormality of the cerebral white matter Blindness Optic atrophy CNS hypomyelination Paraparesis Spastic paraparesis Leukodystrophy Hearing impairment Diarrhea Infantile onset Choreoathetosis Severe global developmental delay Hypokinesia Abnormality of the nervous system Depressivity Cerebellar hypoplasia Agitation Short stature Small for gestational age Falls Ptosis Hypertonia Bradykinesia Hyperkinesis Coarse hair Limb dystonia Alopecia Feeding difficulties Nephrotic syndrome Growth delay Thrombocytopenia Intrauterine growth retardation Skin rash Reduced intraabdominal adipose tissue Caudate atrophy Poor motor coordination Progressive psychomotor deterioration Spastic paraplegia Generalized lipodystrophy Lymphadenopathy Loss of speech Abnormality of dental color Brisk reflexes Pallor Athetosis Dehydration Hallucinations Horizontal nystagmus Drooling Mitochondrial myopathy Diffuse cerebral atrophy Gastrointestinal dysmotility Loss of ability to walk Pain Respiratory failure Reduced subcutaneous adipose tissue Respiratory tract infection Ranula Hepatic steatosis Cirrhosis Hypertriglyceridemia Status epilepticus Insulin resistance Generalized hirsutism Paraplegia Hyperinsulinemia Acanthosis nigricans Vasculitis Tetraplegia Synophrys Upper limb undergrowth Chronic bronchitis Dilated fourth ventricle Testicular atrophy Paranoia Suicidal ideation Frequent temper tantrums Pneumonia Joint stiffness Corneal opacity Hirsutism Bronchitis Split hand Limb ataxia Recurrent upper respiratory tract infections Growth abnormality Thickened calvaria Dysostosis multiplex Asymmetric septal hypertrophy Visceromegaly Heparan sulfate excretion in urine Thickened ribs Ovoid thoracolumbar vertebrae Head tremor Rheumatoid arthritis Lower limb spasticity Diabetes mellitus Progressive microcephaly Parkinsonism Toe walking Increased antibody level in blood Basal ganglia calcification Pericardial effusion Progressive spastic paraplegia Atopic dermatitis Serositis Chilblains Anemia Arthritis Akinesia Weight loss Anxiety Cough Infertility Abnormal cerebellum morphology Neurodegeneration Type II diabetes mellitus Generalized seizures Abnormality of the voice Schizophrenia Involuntary movements X-linked dominant inheritance Hypertrophic cardiomyopathy Metabolic acidosis Death in infancy Scoliosis Broad thumb Flexion contracture Visual impairment Arrhythmia Smooth philtrum Kyphoscoliosis Arthrogryposis multiplex congenita Polymicrogyria Upslanted palpebral fissure Premature birth Flared nostrils Hydrocephalus Ventriculomegaly Transient hyperphenylalaninemia Oculogyric crisis Hyperphenylalaninemia Excessive salivation Decreased muscle mass Global brain atrophy Ankle clonus Severe failure to thrive Progressive language deterioration Unilateral ptosis Rotary nystagmus Epileptic encephalopathy Abnormal facial shape Milia Amelogenesis imperfecta Hyporeflexia Abnormality of the genital system Abnormality of dental enamel Hypohidrosis Hypoplasia of dental enamel Wide mouth Apnea Autistic behavior Impaired social interactions Thick vermilion border Hypertrichosis Stereotypy Reduced tendon reflexes Relative macrocephaly Delayed gross motor development Cortical dysplasia Loss of consciousness Bruxism Cerebellar vermis hypoplasia Corpus callosum atrophy Progressive spastic paraparesis Lactic acidosis Decreased circulating progesterone Axonal degeneration Secondary amenorrhea Delusions Poor head control CNS demyelination Cerebral hypomyelination Primary gonadal insufficiency Diffuse leukoencephalopathy Spastic hemiparesis Cessation of head growth Poor suck Encephalitis Sensorineural hearing impairment Intellectual disability, progressive Intellectual disability, mild Abnormality of extrapyramidal motor function Acidosis Visual loss Hypoglycemia Yellow-brown discoloration of the teeth Retinal degeneration Postural instability Opisthotonus Emotional lability Progressive flexion contractures Ketonuria Projectile vomiting Rapid neurologic deterioration Sudanophilic leukodystrophy Diffuse cerebral sclerosis Muscle weakness Excessive daytime somnolence Peripheral neuropathy Drowsiness Episodic fever Coma Oxycephaly Premature ovarian insufficiency Distal muscle weakness Lethargy Unsteady gait Juvenile onset Amenorrhea Peripheral demyelination Memory impairment Primary amenorrhea Spastic gait Hemiparesis Leukoencephalopathy Dense calvaria



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