Failure to thrive, and Gait ataxia

Diseases related with Failure to thrive and Gait ataxia

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

Top matches:

Yuan-Harel-Lupski syndrome is a complex neurodevelopmental disorder characterized by global developmental delay and early-onset peripheral neuropathy. The disorder comprises features of both demyelinating Charcot-Marie-Tooth disease type 1A (CMT1A ), which results from duplication of the PMP22 gene on 17p12, and Potocki-Lupski syndrome (PTLS ), which results from duplication of a slightly proximal region on 17p11.2 that includes the RAI1 gene. These 2 loci are about 2.5 Mb apart. The resultant YUHAL phenotype may be more severe in comparison to the individual contributions of each gene, with particularly early onset of peripheral neuropathy and features of both central and peripheral nervous system involvement (summary by Yuan et al., 2015).

PMP22-RAI1 CONTIGUOUS GENE DUPLICATION SYNDROME Is also known as trisomy 17p11.2-p12|dup(17)(p11.2p12)|trisomy 17p11.2p12|yuan-harel-lupski syndrome|17p11.2p12 microduplication syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about PMP22-RAI1 CONTIGUOUS GENE DUPLICATION SYNDROME

Mitochondrial DNA depletion syndrome-8A is a severe autosomal recessive disorder characterized by neonatal hypotonia, lactic acidosis, and neurologic deterioration. Renal tubular involvement may also occur (Bourdon et al., 2007).Mitochondrial DNA depletion syndrome-8B is characterized by ophthalmoplegia, ptosis, gastrointestinal dysmotility, cachexia, peripheral neuropathy, and brain MRI changes, known as the MNGIE phenotype (Shaibani et al., 2009).For a discussion of genetic heterogeneity of mtDNA depletion syndromes, see MTDPS1 (OMIM ).

MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM WITH RENAL TUBULOPATHY Is also known as mitochondrial dna depletion syndrome, encephalomyopathic, with renal tubulopathy, autosomal recessive|mtdna depletion syndrome, encephalomyopathic form with renal tubulopathy

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM WITH RENAL TUBULOPATHY

SULFITE OXIDASE DEFICIENCY, ISOLATED; ISOD Is also known as sulfocysteinuria

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SULFITE OXIDASE DEFICIENCY, ISOLATED; ISOD

Other less relevant matches:

High match EAST SYNDROME

SeSAME syndrome is characterized by seizures, sensorineural deafness, ataxia, intellectual deficit, and electrolyte imbalance (hypokalemia, metabolic alkalosis, and hypomagnesemia).

EAST SYNDROME Is also known as sesame syndrome|epilepsy-ataxia-sensorineural deafness-tubulopathy syndrome|seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome|east syndrome|epilepsy, ataxia, sensorineural deafness, and tubulopathy

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about EAST SYNDROME

MRXSB is an X-linked dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with behavioral abnormalities, and dysmorphic facial features. Additional variable features include musculoskeletal abnormalities, seizures, acquired microcephaly, and feeding problems with poor overall growth. Only females are affected (summary by Bain et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB

NDHMSD is a severe neurodevelopmental disorder characterized by profound developmental delay, severe intellectual disability with absent speech, muscular hypotonia, and a hyperkinetic movement disorder. Additional features may include cortical blindness, generalized cerebral atrophy, and seizures (summary by Lemke et al., 2016).

NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT; NDHMSD Is also known as mrd8, formerly|mental retardation, autosomal dominant 8, formerly

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT; NDHMSD

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

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about HSD10 MITOCHONDRIAL DISEASE; HSD10MD

Oliver-McFarlane syndrome is a rare congenital disorder characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies, including growth hormone (GH ), gonadotropins (see {118860}), and thyroid-stimulating hormone (TSH; see {118850}). Thyroid and GH abnormalities may be present at birth and, if untreated, result in intellectual impairment and profound short stature. Congenital hypogonadism occurs in half of patients, and nearly all have documented hypogonadotropic hypogonadism during puberty, with subsequent reproductive dysfunction. Chorioretinal atrophy is typically noted in the first 5 years of life. Half of reported cases have spinocerebellar involvement, including ataxia, spastic paraplegia, and peripheral neuropathy (summary by Hufnagel et al., 2015).Laurence-Moon syndrome (OMIM ) is an allelic disorder with overlapping features.

OLIVER-MCFARLANE SYNDROME; OMCS Is also known as eyelashes, long, with mental retardation|trichomegaly with mental retardation, dwarfism, and pigmentary degeneration of retina

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Growth delay
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about OLIVER-MCFARLANE SYNDROME; OMCS

DLD deficiency is an autosomal recessive metabolic disorder characterized biochemically by a combined deficiency of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), pyruvate dehydrogenase complex (PDC), and alpha-ketoglutarate dehydrogenase complex (KGDC). This is the result of E3 being a common component of all 3 mitochondrial multienzyme complexes. Clinically, affected individuals have lactic acidosis and neurologic deterioration due to sensitivity of the central nervous system to defects in oxidative metabolism. E3 deficiency is often associated with increased urinary excretion of alpha-keto acids, such as pyruvate (summary by Hong et al., 1996). E3 deficiency can also be associated with increased concentrations of branched-chain amino acids, as observed in maple syrup urine disease (MSUD ), and is sometimes referred to as 'MSUD type III,' although patients with E3 deficiency have additional biochemical defects (Chuang and Shih, 2001; Robinson, 2001).

DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY; DLDD Is also known as maple syrup urine disease, type iii|e3 deficiency|lipoamide dehydrogenase deficiency, lactic acidosis due to|dld deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY; DLDD

Top 5 symptoms//phenotypes associated to Failure to thrive and Gait ataxia

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Feeding difficulties Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Failure to thrive and Gait ataxia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Ataxia High palate Microcephaly Delayed speech and language development Peripheral neuropathy Hearing impairment Motor delay Muscular hypotonia Short stature Acidosis Sensorineural hearing impairment Muscle weakness Vomiting Metabolic acidosis Hypoglycemia Lactic acidosis Progressive neurologic deterioration Cerebellar atrophy Autism Tremor Hypertonia Dystonia Hyperactivity Absent speech Constipation Aggressive behavior Blindness Encephalopathy Hypotelorism

Rare Symptoms - Less than 30% cases

Myoclonus Cerebral atrophy Intention tremor Generalized-onset seizure Peripheral axonal neuropathy Cognitive impairment Abnormality of movement Aciduria Thick eyebrow Tetraplegia Chorea Spastic tetraplegia Spastic tetraparesis Restlessness Horizontal nystagmus Hypertrophic cardiomyopathy Retinal degeneration Spasticity Choreoathetosis Optic atrophy Developmental regression Autistic behavior Attention deficit hyperactivity disorder Cardiomyopathy Abnormal facial shape Nystagmus Self-injurious behavior Micrognathia Micropenis Scoliosis Pain Cryptorchidism Agitation Intellectual disability, moderate Tetraparesis Gastrointestinal dysmotility Dysarthria Areflexia Joint laxity Generalized muscle weakness Unsteady gait Apathy Retrognathia Astigmatism Rhizomelia Poor suck Coxa valga Accelerated skeletal maturation Scrotal hypoplasia Incoordination Metaphyseal widening 2-3 toe syndactyly Scaphocephaly Decreased liver function Obstructive sleep apnea Hepatic failure Lethargy Broad femoral neck Abnormality of the liver Elevated hepatic transaminase Abdominal pain Fatigue Brisk reflexes Hypospadias Opisthotonus Organic aciduria Methemoglobinemia Focal impaired awareness seizure Vegetative state Global brain atrophy Disproportionate tall stature Prolonged prothrombin time Infantile spasms Atonic seizures Severe lactic acidosis Bruxism Profound global developmental delay Central heterochromia Oculogyric crisis Inappropriate crying Cleft palate Cataract Hypothermia Neonatal hypoglycemia Polycythemia Exertional dyspnea Myopia Intrauterine growth retardation Ventricular septal defect Hepatomegaly Paraplegia Dysphagia Pigmentary retinopathy Gynecomastia Growth delay Long eyelashes Clumsiness Frontal bossing Progressive microcephaly Obesity Sparse scalp hair Alopecia Hypoplasia of penis Severe short stature Progressive choreoathetosis Rod-cone dystrophy Hypogonadism Hypothyroidism Pallor Growth hormone deficiency Sparse hair Progressive cerebellar ataxia Distal muscle weakness Small for gestational age Spastic paraplegia Delayed puberty Hypogonadotrophic hypogonadism Persistent lactic acidosis Distal amyotrophy Retinal atrophy Choroideremia Alopecia areata Myopathy Titubation Recurrent hypoglycemia Intellectual disability, mild Visual loss Cerebral cortical atrophy Progressive gait ataxia Rigidity Neurological speech impairment Abnormal mitochondrial morphology Chorioretinal atrophy Neurodegeneration Dehydration Hallucinations Sensory axonal neuropathy Drooling Abnormality of mitochondrial metabolism Athetosis Mitochondrial myopathy Diffuse cerebral atrophy Loss of ability to walk Long eyebrows Stereotypy Cerebral visual impairment Cerebellar vermis hypoplasia Polyneuropathy Increased serum lactate Progressive muscle weakness Aminoaciduria External ophthalmoplegia Ragged-red muscle fibers Cachexia Proximal tubulopathy Irritability Delayed eruption of teeth Eczema Fine hair Nausea and vomiting Aspiration Infantile muscular hypotonia Hemiplegia Ectopia lentis Basal ganglia calcification Generalized dystonia Molybdenum cofactor deficiency Sulfite oxidase deficiency Decreased urinary sulfate Increased urinary sulfite Hypertension Proteinuria Nausea Ophthalmoplegia Postural instability Triangular face Strabismus Downslanted palpebral fissures Long philtrum Abnormal heart morphology Upslanted palpebral fissure Thin upper lip vermilion Abnormal cardiac septum morphology Abnormality of the foot Poor speech Smooth philtrum Distal sensory impairment Wide nose Sensory impairment Neonatal hypotonia Broad-based gait Decreased nerve conduction velocity Failure to thrive in infancy Decreased number of peripheral myelinated nerve fibers Onion bulb formation Delayed ability to walk Syringomyelia Chronic constipation Demyelinating peripheral neuropathy Ptosis Respiratory insufficiency Weight loss Generalized tonic-clonic seizures CNS hypomyelination Involuntary movements Hypoplasia of the corpus callosum Pectus carinatum Thick vermilion border Abnormal cerebellum morphology Underdeveloped nasal alae Short palpebral fissure Thick lower lip vermilion Postnatal microcephaly Obsessive-compulsive behavior Visual impairment Hyperreflexia Ventriculomegaly Intellectual disability, severe Wide mouth EEG abnormality Deeply set eye Abnormality of the eye Abnormal pyramidal sign Abnormality of eye movement Joint hypermobility Inability to walk Dyskinesia Febrile seizures Epileptic encephalopathy Hypsarrhythmia Status epilepticus Short philtrum Hyperlordosis Hypokalemia Increased circulating renin level Dysdiadochokinesis Polydipsia Polyuria Glycosuria Hyperaldosteronism Hypomagnesemia Renal salt wasting Alkalosis Enuresis Metabolic alkalosis Abnormality of the mitochondrion Abnormality of the renal tubule Hypocalciuria Anxiety Hypokalemic metabolic alkalosis Chronic axonal neuropathy Renal potassium wasting Peripheral hypomyelination Salt craving Renal sodium wasting Hypertelorism Epicanthus Gait disturbance Behavioral abnormality Gastroesophageal reflux Pes planus Recurrent encephalopathy


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