Failure to thrive, and Abnormality of extrapyramidal motor function

Diseases related with Failure to thrive and Abnormality of extrapyramidal motor function

In the following list you will find some of the most common rare diseases related to Failure to thrive and Abnormality of extrapyramidal motor function that can help you solving undiagnosed cases.

Top matches:

Spinocerebellar ataxia-7 (SCA7) is an autosomal dominant neurodegenerative disorder characterized by adult onset of progressive cerebellar ataxia associated with pigmental macular dystrophy. In her classification of ataxia, Harding (1982) referred to progressive cerebellar ataxia with pigmentary macular degeneration as type II ADCA (autosomal dominant cerebellar ataxia). The age at onset, degree of severity, and rate of progression vary among and within families. Associated neurologic signs, such as ophthalmoplegia, pyramidal or extrapyramidal signs, deep sensory loss, or dementia, are also variable. Genetic anticipation is observed and is greater in paternal than in maternal transmissions (Benomar et al., 1994; summary by David et al., 1996).For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (OMIM ).

SPINOCEREBELLAR ATAXIA 7; SCA7 Is also known as opca iii|opca with macular degeneration and external ophthalmoplegia|adca, type ii|olivopontocerebellar atrophy iii|opca3|opca with retinal degeneration|autosomal dominant cerebellar ataxia, type ii

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 7; SCA7

CONDBA is a severe progressive neurodegenerative disorder characterized by loss of motor and cognitive skills between ages 2 and 7 years. Affected individuals may have normal development or mild developmental delay, but all eventually lose all motor skills, resulting in inability to walk, absence of language, and profound intellectual disability. Brain imaging shows progressive cerebral and cerebellar atrophy (summary by Edvardson et al., 2017).

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHILDHOOD-ONSET MOTOR AND COGNITIVE REGRESSION SYNDROME WITH EXTRAPYRAMIDAL MOVEMENT DISORDER

GM2 gangliosidosis, AB variant is an extremely rare, severe genetic disorder characterized by progressive neurological decline due to ganglioside activator deficiency.

GM2 GANGLIOSIDOSIS, AB VARIANT Is also known as tay-sachs disease, ab variant|ab variant gm2-gangliosidosis|hexosaminidase activator deficiency|gm2 activator deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Failure to thrive


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about GM2 GANGLIOSIDOSIS, AB VARIANT

Other less relevant matches:

Pontocerebellar hypoplasia (PCH) represents a heterogeneous group of disorders characterized by an abnormally small cerebellum and brainstem. PCH type 2 is characterized by progressive microcephaly from birth combined with extrapyramidal dyskinesia and chorea, epilepsy, and normal spinal cord findings (Barth, 1993).For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 (OMIM ). Genetic Heterogeneity of Pontocerebellar Hypoplasia Type 2PCH2B (OMIM ) is caused by mutation in the TSEN2 gene (OMIM ) on chromosome 3p25, and PCH2C (OMIM ) is caused by mutation in the TSEN34 gene (OMIM ) on chromosome 19q13. PCH2D (OMIM ) is caused by mutation in the SEPSECS gene (OMIM ) on chromosome 4p15. PCH2E (OMIM ) is caused by mutation in the VPS53 gene (OMIM ) on chromosome 17p13. PCH2F (OMIM ) is caused by mutation in the TSEN15 gene (OMIM ) on chromosome 1q25. The TSEN2 and TSEN34 genes encode catalytic subunits of the tRNA splicing endonuclease, whereas the TSEN54 gene encodes a noncatalytic subunit. The SEPSECS gene is also involved in tRNA processing.

PONTOCEREBELLAR HYPOPLASIA, TYPE 2A; PCH2A Is also known as pch2|volendam neurodegenerative disease|pontocerebellar hypoplasia with progressive cerebral atrophy

Related symptoms:

  • Seizures
  • Microcephaly
  • Failure to thrive
  • Flexion contracture
  • Feeding difficulties


SOURCES: OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 2A; PCH2A

Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome is a rare, genetic, neurometabolic disorder characterized by severe, progressive microcephaly, severe to profound global development delay, intellectual disability, seizures (typically tonic and/or myoclonic and frequently intractable), hyperekplexia, and axial hypotonia with appendicular spasticity, as well as hyperreflexia, dyskinetic quadriplegia, and abnormal brain morphology (cerebral atrophy with variable additional features including ventriculomeglay, pons and/or cerebellar hypoplasia, simplified gyral pattern and delayed myelination). Cortical blindness, feeding difficulties and respiratory insufficiency may also be associated.

CONGENITAL MICROCEPHALY-SEVERE ENCEPHALOPATHY-PROGRESSIVE CEREBRAL ATROPHY SYNDROME Is also known as asparagine synthetase deficiency|asns deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL MICROCEPHALY-SEVERE ENCEPHALOPATHY-PROGRESSIVE CEREBRAL ATROPHY SYNDROME

Ethylmalonic acid encephalopathy (EE) is defined by elevated excretion of ethylmalonic acid (EMA) with recurrent petechiae, orthostatic acrocyanosis and chronic diarrhoea associated with neurodevelopmental delay, psychomotor regression and hypotonia with brain magnetic resonance imaging (MRI) abnormalities.

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about ETHYLMALONIC ENCEPHALOPATHY

Leukoencephalopathy-thalamus and brainstem anomalies-high lactate (LTBL) syndrome is a rare, genetic neurological disorder defined by early-onset of neurologic symptoms, biphasic clinical course, unique MRI features (incl. extensive, symmetrical, deep white matter abnormalities), and increased lactate in body fluids. The severe form is characterized by delayed psychomotor development, seizures, early-onset hypotonia, and persistently increased lactate levels. The mild form usually presents with irritability, psychomotor regression after six months of age, and temporary high lactate levels, with overall clinical improvement from the second year onward.

LEUKOENCEPHALOPATHY-THALAMUS AND BRAINSTEM ANOMALIES-HIGH LACTATE SYNDROME Is also known as coxpd12|combined oxidative phosphorylation defect type 12|ltbl|leukoencephalopathy with thalamus and brainstem involvement and high lactate

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Cleft palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about LEUKOENCEPHALOPATHY-THALAMUS AND BRAINSTEM ANOMALIES-HIGH LACTATE SYNDROME

Medium match CLN1 DISEASE

The neuronal ceroid lipofuscinoses (NCL; 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. The lipopigment pattern seen most often in CLN1 is referred to as granular osmiophilic deposits (GROD). The patterns most often observed in CLN2 and CLN3 are 'curvilinear' and 'fingerprint' profiles, respectively. CLN4, CLN5, CLN6, CLN7, and CLN8 show mixed combinations of granular, curvilinear, fingerprint, and rectilinear profiles. The clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005).Zeman and Dyken (1969) referred to these conditions as the 'neuronal ceroid lipofuscinoses.' Goebel (1995) provided a comprehensive review of the NCLs and noted that they are possibly the most common group of neurodegenerative diseases in children.Mole et al. (2005) provided a detailed clinical and genetic review of the neuronal ceroid lipofuscinoses. Genetic Heterogeneity of Neuronal Ceroid LipofuscinosisSee also CLN2 (OMIM ), caused by mutation in the TPP1 gene (OMIM ) on chromosome 11p15; CLN3 (OMIM ), caused by mutation in the CLN3 gene (OMIM ) on 16p12; CLN4A (OMIM ), caused by mutation in the CLN6 gene (OMIM ) on 15q21; CLN4B (OMIM ), caused by mutation in the DNAJC5 gene (OMIM ) on 20q13; CLN5 (OMIM ), caused by mutation in the CLN5 gene (OMIM ) on 13q; CLN6 (OMIM ), caused by mutation in the CLN6 gene (OMIM ) on 15q21; CLN7 (OMIM ), caused by mutation in the MFSD8 gene (OMIM ) on 4q28; CLN8 (OMIM ) and the Northern epilepsy variant of CLN8 (OMIM ), caused by mutation in the CLN8 gene (OMIM ) on 8pter; CLN10 (OMIM ), caused by mutation in the CTSD gene (OMIM ) on 11p15; CLN11 (OMIM ), caused by mutation in the GRN gene (OMIM ) on 17q; CLN13 (OMIM ), caused by mutation in the CTSF gene (OMIM ) on 11q13; and CLN14 (OMIM ), caused by mutation in the KCTD7 gene (OMIM ) on 7q11.CLN9 (OMIM ) has not been molecularly characterized.A disorder that was formerly designated neuronal ceroid lipofuscinosis-12 (CLN12) is now considered to be a variable form of Kufor-Rakeb syndrome (KRS ).

CLN1 DISEASE Is also known as ceroid lipofuscinosis, neuronal, 1, variable age at onset

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CLN1 DISEASE

X-linked creatine transporter deficiency (CRTR-D) is a creatine deficiency syndrome characterized clinically by global developmental delay/ intellectual disability (DD/ID) with prominent speech/language delay, autistic behavior and seizures.

X-LINKED CREATINE TRANSPORTER DEFICIENCY Is also known as slc6a8 deficiency|mental retardation, x-linked, with creatine transport deficiency|creatine deficiency syndrome, x-linked|mental retardation, x-linked, with seizures, short stature, and midface hypoplasia|creatine transporter deficiency|creatine transport

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about X-LINKED CREATINE TRANSPORTER DEFICIENCY

Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease.

PYRUVATE DEHYDROGENASE E3 DEFICIENCY Is also known as e3-deficient maple syrup urine disease|nadh-cytochrome b5 reductase deficiency|dihydrolipoamide dehydrogenase deficiency|nadh-dependent methemoglobin reductase deficiency|methemoglobinemia, congenital, autosomal recessive|dld deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PYRUVATE DEHYDROGENASE E3 DEFICIENCY

Top 5 symptoms//phenotypes associated to Failure to thrive and Abnormality of extrapyramidal motor function

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Ataxia Common - Between 50% and 80% cases
Spasticity Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Failure to thrive and Abnormality of extrapyramidal motor function. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Microcephaly

Uncommon Symptoms - Between 30% and 50% cases

Feeding difficulties Cerebral cortical atrophy Hypoplasia of the corpus callosum Dystonia Intellectual disability Chorea Hypertonia Muscular hypotonia of the trunk Developmental regression Irritability Muscular hypotonia Myoclonus Blindness Encephalopathy Optic atrophy Lactic acidosis Cerebral atrophy Neurodegeneration Dementia Severe global developmental delay Tetraparesis Visual impairment Abnormal pyramidal sign Cerebellar atrophy Progressive microcephaly Mental deterioration Ptosis Parkinsonism Ophthalmoplegia Hyperreflexia Increased serum lactate

Rare Symptoms - Less than 30% cases

Language impairment Intellectual disability, profound Spastic tetraplegia Brain atrophy Motor deterioration Cerebellar hypoplasia Delayed myelination Flexion contracture Short stature Cognitive impairment Motor delay Dysarthria Athetosis Vomiting Spastic tetraparesis Behavioral abnormality Loss of speech Hypoplasia of the pons Exaggerated startle response Opisthotonus Clonus Abnormality of the cerebral white matter Feeding difficulties in infancy Progressive encephalopathy Gliosis Babinski sign Dyskinesia Progressive visual loss Reduced visual acuity Macular degeneration Acidosis Hepatomegaly Visual loss Hyperactivity External ophthalmoplegia Absent speech Abnormality of metabolism/homeostasis Neonatal hypotonia Dysphagia Elevated hepatic transaminase Neurodevelopmental delay Macrovesicular hepatic steatosis Malar flattening Decreased activity of mitochondrial complex I Visual hallucinations Midface retrusion Constipation Pes cavus Decreased activity of mitochondrial complex III Mandibular prognathia Aggressive behavior Ragged-red muscle fibers Dysplastic corpus callosum Depressivity Decreased activity of mitochondrial complex IV Hallucinations Muscle fibrillation Global brain atrophy Undetectable electroretinogram Decreased light- and dark-adapted electroretinogram amplitude Psychomotor deterioration Vacuolated lymphocytes Intracellular accumulation of autofluorescent lipopigment storage material Increased neuronal autofluorescent lipopigment Hyperisoleucinemia Intellectual disability, severe Postnatal microcephaly Nevus Sleep disturbance EEG abnormality Rod-cone dystrophy Delayed speech and language development Peripheral visual field loss Gait disturbance Abnormal cardiac ventricular function Narrow face Intellectual disability, moderate Coma Growth delay Athetoid cerebral palsy Strabismus Elevated plasma branched chain amino acids Cardiomyopathy Headache Hypoglycemia Abnormality of the nervous system Small for gestational age Lethargy Hepatic failure Muscle cramps Underfolded superior helices Tetraplegia Cyanosis Involuntary movements Cerebral palsy Hyperammonemia Exertional dyspnea Polycythemia Hypercoagulability Decreased plasma carnitine Generalized tonic seizures Hepatic encephalopathy Methemoglobinemia Scoliosis Poor hand-eye coordination Autistic behavior Stereotypy Attention deficit hyperactivity disorder Broad forehead Hypermetropia Joint hyperflexibility Long face Joint hypermobility Open mouth Choreoathetosis Clumsiness Aganglionic megacolon Tall stature Exotropia Abnormality of creatine metabolism Cachexia Redundant skin Mask-like facies Myopathic facies Muscle stiffness Self-mutilation Chronic constipation Speech apraxia Ileus Impaired social interactions Urethral stenosis Duodenal ulcer Leukoencephalopathy Macrotia Cholestasis High pitched voice Rigidity Abnormality of movement Inability to walk Postural instability Premature birth Peripheral demyelination Generalized-onset seizure Increased body weight Impulsivity Axonal loss Supranuclear ophthalmoplegia Anarthria Muscle weakness Anxiety Postnatal growth retardation Paralysis Generalized myoclonic seizures Aspiration Poor head control Apathy Spinocerebellar atrophy Limb tremor Primitive reflex Neuronal loss in central nervous system Nystagmus Tremor Areflexia Retinopathy Spastic paraplegia Paraplegia Dysmetria Retinal degeneration Progressive cerebellar ataxia Pigmentary retinopathy Orofacial dyskinesia Schizophrenia Incoordination Ophthalmoparesis Blurred vision Macular dystrophy Bipolar affective disorder Slow saccadic eye movements Head tremor Spinocerebellar tract degeneration Olivopontocerebellar atrophy Limb dystonia Inappropriate behavior Bradykinesia Arnold-Chiari type I malformation Cortical dysplasia Cortical gyral simplification Long foot Dilation of lateral ventricles Profound global developmental delay Diarrhea Aciduria Chronic diarrhea Petechiae Acrocyanosis Cerebral visual impairment Abnormality of the retinal vasculature Episodic ataxia Ecchymosis Tethered cord Cytochrome C oxidase-negative muscle fibers Focal T2 hyperintense basal ganglia lesion Ethylmalonic aciduria Cleft palate Hypospadias Hepatic steatosis Large hands Hypsarrhythmia Progressive spastic quadriplegia Polyhydramnios Pseudobulbar signs Hyperacusis Cherry red spot of the macula Abnormal involuntary eye movements Infantile axial hypotonia Glabellar reflex Punctate periventricular T2 hyperintense foci Abnormal fear/anxiety-related behavior GM2-ganglioside accumulation Cerebellar vermis hypoplasia Sloping forehead Poor suck Restlessness Abnormality of the periventricular white matter Impaired smooth pursuit Extrapyramidal dyskinesia Hypoplasia of the ventral pons Cerebellar hemisphere hypoplasia Micrognathia Ventriculomegaly Respiratory insufficiency Increased urine alpha-ketoglutarate concentration


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