Failure to thrive, and Dysarthria

Diseases related with Failure to thrive and Dysarthria

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

Top matches:

Combined oxidative phosphorylation defect type 7 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by a variable phenotype that includes onset in infancy or early childhood of failure to thrive and psychomotor regression (after initial normal development), as well as ocular manifestations (such as ptosis, nystagmus, optic atrophy, ophthalmoplegia and reduced vision). Additional manifestations include bulbar paresis with facial weakness, hypotonia, difficulty chewing, dysphagia, mild dysarthria, ataxia, global muscle atrophy, and areflexia. It has a relatively slow disease progression with patients often living into the third decade of life.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 7 Is also known as severe c12orf65-related combined oxidative phosphorylation defect|severe c12orf65-related coxpd|coxpd7

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 7

Medium match CLASSIC GALACTOSEMIA

Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease.

CLASSIC GALACTOSEMIA Is also known as galt deficiency|galactose-1-phosphate uridyltransferase deficiency|galactosemia type 1

Related symptoms:

  • Intellectual disability
  • Ataxia
  • Failure to thrive
  • Cataract
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about CLASSIC GALACTOSEMIA

Other less relevant 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

Mitochondrial complex III deficiency, nuclear type 8, is an autosomal recessive disorder characterized by progressive neurodegeneration with onset in childhood. Affected individuals may have normal or delayed early development, and often have episodic acute neurologic decompensation and regression associated with febrile illnesses. The developmental regression results in variable intellectual disability and motor deficits, such as hypotonia, axial hypertonia, and spasticity; some patients may lose the ability to walk independently. Laboratory studies show increased serum lactate and isolated deficiency of mitochondrial complex III in skeletal muscle and fibroblasts. Brain imaging shows a characteristic pattern of multifocal small cystic lesions in the periventricular and deep cerebral white matter (summary by Dallabona et al., 2016).For a discussion of genetic heterogeneity of mitochondrial complex III deficiency, see MC3DN1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8; MC3DN8

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

Spinocerebellar ataxia type 7 (SCA7), currently the only known form of autosomal dominant cerebellar ataxia type 2 (ADCA2; see this term), is a neurodegenerative disorder characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness.

SPINOCEREBELLAR ATAXIA TYPE 7 Is also known as ataxia with pigmentary retinopathy|sca7|cerebellar syndrome-pigmentary maculopathy syndrome

Related symptoms:

  • Global developmental delay
  • Ataxia
  • Nystagmus
  • Failure to thrive
  • Muscle weakness


SOURCES: ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 7

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

The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012).For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.Individuals with mutations in the PEX16 gene have cells of complementation group 9 (CG9, equivalent to CGD). For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 8B; PBD8B

Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.

VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT- Is also known as vitamin b12-unresponsive methylmalonic aciduria type mut-|partial deficiency of methylmalonyl-coa mutase

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT-

Top 5 symptoms//phenotypes associated to Failure to thrive and Dysarthria

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Ophthalmoplegia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Feeding difficulties Nystagmus Spasticity Hyperreflexia Optic atrophy Seizures External ophthalmoplegia Dysphagia Abnormality of movement Nausea and vomiting Lethargy Dystonia Mental deterioration Increased serum lactate Neonatal hypotonia Developmental regression Areflexia Dysmetria Visual impairment Ptosis Muscle weakness Babinski sign Tremor Hypoplasia of the corpus callosum

Rare Symptoms - Less than 30% cases

Orofacial dyskinesia Blindness Cerebral atrophy Encephalopathy Macular degeneration Lactic acidosis Acidosis Anemia Weight loss Reduced visual acuity Gait disturbance Spastic paraplegia Cataract Visual loss Neurodegeneration Progressive neurologic deterioration Abnormal pyramidal sign Polyneuropathy Hearing impairment Sensorineural hearing impairment Peripheral neuropathy Chorea Cerebellar atrophy Ophthalmoparesis Cone/cone-rod dystrophy Hemeralopia Abnormal fundus morphology Restless legs Respiratory insufficiency Vomiting Dysdiadochokinesis Nasogastric tube feeding in infancy Psychosis Language impairment Gliosis Brain atrophy Premature birth Peripheral demyelination Generalized-onset seizure Intellectual disability, profound Increased body weight Impulsivity Sensory impairment High pitched voice Axonal loss Motor deterioration Anarthria Motor delay Congestive heart failure Photophobia Microcephaly Gait ataxia Ragged-red muscle fibers Unsteady gait Thrombocytopenia Muscular hypotonia Hepatomegaly Respiratory distress Cardiomyopathy Splenomegaly Renal insufficiency Immunodeficiency Abdominal pain Corpus callosum atrophy Stroke Neutropenia Coma Dehydration Choreoathetosis Anorexia Pancreatitis Very long chain fatty acid accumulation Cerebellar vermis atrophy Nausea Cognitive impairment Generalized muscle weakness Progressive muscle weakness Aminoaciduria Postural instability Cachexia Gastrointestinal dysmotility Proximal tubulopathy Constipation Spastic paraparesis Abnormality of the cerebral white matter Falls Retinal dystrophy Sensory neuropathy Frequent falls Lower limb spasticity Decreased liver function Leukodystrophy Parkinsonism Exotropia Inability to walk Abnormality of the ovary Hypoglycemia Difficulty walking Hepatic failure Abnormal bleeding Sepsis Speech apraxia Decreased fertility in females Osteoporosis Speech articulation difficulties Impairment of galactose metabolism Absent speech Dementia Retinopathy Paraplegia Jaundice Paralytic ileus Dyskinesia Broad-based gait Progressive spasticity Strabismus Drooling Severe muscular hypotonia Skeletal muscle atrophy Postnatal microcephaly Hypotelorism Ileus Narrow forehead Distal sensory impairment Febrile seizures Generalized tonic-clonic seizures Facial diplegia Increased CSF lactate Retinal degeneration Progressive cerebellar ataxia Muscular hypotonia of the trunk Leukoencephalopathy Dyspnea Irritability Optic disc pallor Tetraparesis Abnormal CNS myelination Spastic tetraparesis Failure to thrive in infancy Low-set ears Stridor Brisk reflexes Abnormality of the periventricular white matter Hyperactivity Cerebral cortical atrophy Rigidity Respiratory failure Hypertonia Progressive visual loss Macular dystrophy Neuronal loss in central nervous system Pigmentary retinopathy Abnormality of extrapyramidal motor function Schizophrenia Incoordination Blurred vision Bipolar affective disorder Delayed speech and language development Slow saccadic eye movements Head tremor Spinocerebellar tract degeneration Olivopontocerebellar atrophy Limb tremor Supranuclear ophthalmoplegia Spinocerebellar atrophy Hyperammonemia


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