Dysarthria, and Hepatic failure

Diseases related with Dysarthria and Hepatic failure

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

Top matches:

Medium match LAFORA DISEASE

Lafora disease (LD) is a rare, inherited, severe, progressive myoclonic epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations (partial occipital seizures), and progressive neurological decline.

LAFORA DISEASE Is also known as epm2a|lafora disease|progressive myoclonus epilepsy type 2|lafora body disease|pme type 2|epilepsy, progressive myoclonic, 2a|melf|epm2|lbd|progressive myoclonic epilepsy type 2

Related symptoms:

  • Seizures
  • Ataxia
  • Cognitive impairment
  • Dysarthria
  • Gait disturbance


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about LAFORA DISEASE

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

Medium 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

Other less relevant matches:

Related symptoms:

  • Nystagmus
  • Dysarthria
  • Cerebellar atrophy
  • Cerebral cortical atrophy
  • Gait ataxia


SOURCES: ORPHANET MENDELIAN

More info about CONGENITAL CEREBELLAR ATAXIA DUE TO RNU12 MUTATION

Niemann-Pick type C (NPC) disease is an autosomal recessive lipid storage disorder characterized by progressive neurodegeneration. Approximately 95% of cases are caused by mutations in the NPC1 gene, referred to as type C1; 5% are caused by mutations in the NPC2 gene (OMIM ), referred to as type C2 (OMIM ). The clinical manifestations of types C1 and C2 are similar because the respective genes are both involved in egress of lipids, particularly cholesterol, from late endosomes or lysosomes (summary by Vance, 2006).Historically, Crocker (1961) delineated 4 types of Niemann-Pick disease: the classic infantile form (type A; {257200}), the visceral form (type B; {607616}), the subacute or juvenile form (type C), and the Nova Scotian variant (type D). Types C1 and D are indistinguishable except for the occurrence of type D in patients of Nova Scotian Acadian ancestry. Since then, types E and F have also been described (see {607616}), and phenotypic variation within each group has also been described.

NIEMANN-PICK DISEASE, TYPE C1; NPC1 Is also known as niemann-pick disease, type c|niemann-pick disease with cholesterol esterification block|neurovisceral storage disease with vertical supranuclear ophthalmoplegia|niemann-pick disease, subacute juvenile form|npc|niemann-pick disease without sphingomyelinase

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about NIEMANN-PICK DISEASE, TYPE C1; NPC1

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 PEX2 gene have cells of complementation group 5 (CG5, equivalent to CG10 and CGF). 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 5B; PBD5B

Myopathic mitochondrial DNA (mtDNA) depletion syndrome is one of the main forms of mtDNA depletion syndrome (see this term) that displays a broad phenotypic spectrum but that is most often characterized by hypotonia, proximal muscle weakness, facial and bulbar weakness and failure to thrive.

MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM Is also known as mtdna depletion syndrome, myopathic form|mitochondrial dna depletion myopathy, tk2-related

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Muscle weakness
  • Muscular hypotonia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM

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

Medium match GALACTOSEMIA

Classic galactosemia is an autosomal recessive disorder of galactose metabolism. Most patients present in the neonatal period, after ingestion of galactose, with jaundice, hepatosplenomegaly, hepatocellular insufficiency, food intolerance, hypoglycemia, renal tubular dysfunction, muscle hypotonia, sepsis, and cataract. Long-term complications include mental retardation, verbal dyspraxia, motor abnormalities, and hypergonadotropic hypogonadism (summary by Bosch, 2006).

GALACTOSEMIA Is also known as galactose-1-phosphate uridylyltransferase deficiency|galt deficiency|galactosemia, classic

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about GALACTOSEMIA

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. Some patients with PEX10 mutations have a milder disorder characterized by childhood-onset cerebellar ataxia and neuropathy without mental retardation (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 PEX10 gene have cells of complementation group 7 (CG7, equivalent to CGB). For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 6B; PBD6B

Top 5 symptoms//phenotypes associated to Dysarthria and Hepatic failure

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

Other less frequent symptoms

Patients with Dysarthria and Hepatic failure. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Decreased liver function Seizures Gait disturbance Hearing impairment Muscular hypotonia Neonatal hypotonia Visual impairment Nystagmus Cognitive impairment Intention tremor Hypoglycemia Cataract Jaundice Cerebellar atrophy Areflexia Dysmetria Broad-based gait Pneumonia Abnormality of the cerebral white matter Sensorineural hearing impairment Retinal dystrophy Failure to thrive Gait ataxia Behavioral abnormality

Rare Symptoms - Less than 30% cases

Cerebellar vermis atrophy Ascites Hyporeflexia Abnormality of the nervous system Abnormality of metabolism/homeostasis Dementia Neurodegeneration Hepatosplenomegaly Myoclonus Irritability Dysphagia Aminoaciduria Peripheral neuropathy Hepatomegaly Abnormality of the liver Spasticity Generalized tonic-clonic seizures Mental deterioration Growth delay Very long chain fatty acid accumulation Frequent falls Difficulty walking Delayed gross motor development Edema Pes cavus Apraxia Psychosis Cirrhosis Ophthalmoplegia Progressive cerebellar ataxia Neurological speech impairment Blindness Feeding difficulties Progressive neurologic deterioration Osteoporosis Weight loss Impairment of galactose metabolism Falls Lethargy Speech articulation difficulties Nausea and vomiting Abnormality of movement Abnormal bleeding Sepsis Speech apraxia Abnormality of the ovary Decreased fertility in females Facial diplegia Respiratory arrest Mitochondrial myopathy Nasal speech Abnormality of the basal ganglia Gowers sign EMG: myopathic abnormalities Severe lactic acidosis Progressive external ophthalmoplegia Toe walking Decreased muscle mass Generalized amyotrophy Ankle contracture Increased level of galactitol in plasma Waddling gait Infantile muscular hypotonia Proximal muscle weakness Ptosis Flexion contracture Skeletal muscle atrophy Fatigue Respiratory insufficiency Myopathy Cerebral atrophy Elevated serum creatine phosphokinase Respiratory failure Delayed menarche Acidosis Facial palsy Dysmetric saccades Hyperlordosis Muscular dystrophy Limb muscle weakness Lactic acidosis Lumbar hyperlordosis Gynecomastia Intellectual disability, progressive Scapular winging Respiratory insufficiency due to muscle weakness External ophthalmoplegia Ragged-red muscle fibers Decreased activity of mitochondrial respiratory chain Spastic paraparesis Weak voice Distal amyotrophy Premature ovarian insufficiency Nephritis Limb ataxia Sensory impairment Abnormality of the coagulation cascade Abnormality of coagulation Renal tubular dysfunction Distal sensory impairment Edema of the lower limbs Neoplasm of the liver Vitreous hemorrhage Failure to thrive in infancy Peripheral axonal neuropathy Elevated hepatic transaminase Increased level of galactonate in red blood cells Increased level of galactitol in urine Increased level of galactitol in red blood cells Retinal hemorrhage Hypergalactosemia Hyperchloremic metabolic acidosis Albuminuria Food intolerance Abnormality of the voice Shock Generalized aminoaciduria Microcephaly Loss of ability to walk in early childhood Impaired smooth pursuit Depletion of mitochondrial DNA in muscle tissue Optic atrophy Constipation Sensory neuropathy Lower limb spasticity Leukodystrophy Galactosuria Corpus callosum atrophy Neoplasm Hypogonadotrophic hypogonadism Delayed speech and language development Vomiting Diarrhea Renal insufficiency Hypogonadism Feeding difficulties in infancy Hemolytic anemia Metabolic acidosis Abdominal distention Anorexia Hypergonadotropic hypogonadism Muscle weakness Head tremor Elevated levels of phytanic acid Reduced antithrombin III activity Abnormal intestine morphology Polycystic ovaries Partial agenesis of the corpus callosum Alopecia of scalp Hyperinsulinemic hypoglycemia Protein-losing enteropathy Type I transferrin isoform profile Frontal balding Increased serum testosterone level Reduced factor XI activity Hypermetropia Elevated serum transaminases during infections Cerebral cortical atrophy Febrile seizures Abnormal corpus callosum morphology Poor fine motor coordination Infantile axial hypotonia Neurodevelopmental abnormality Anemia Hyperreflexia Intrauterine growth retardation Cerebral visual impairment Muscular hypotonia of the trunk Splenomegaly Absence seizures Headache Depressivity Visual loss Confusion Inability to walk Generalized myoclonic seizures Focal-onset seizure Generalized-onset seizure Cutaneous photosensitivity Hallucinations Hyperkinesis Agenesis of corpus callosum Visual hallucinations Vegetative state Generalized tonic-clonic seizures with focal onset Giant somatosensory evoked potentials Lafora bodies Visual auras Simple partial occipital seizures Strabismus Intellectual disability, severe Recurrent infections Dystonia Thrombocytopenia Bronchiolitis Abnormal cholesterol homeostasis Vertical supranuclear gaze palsy Cataplexy Supranuclear ophthalmoplegia Bone-marrow foam cells Rapid neurologic deterioration Fetal ascites Congenital thrombocytopenia Sea-blue histiocytosis Foam cells in visceral organs and CNS Low cholesterol esterification rates Foam cells Fatal liver failure in infancy Rod-cone dystrophy Joint laxity Unsteady gait Polyneuropathy Abnormal cerebellum morphology Oculomotor apraxia Gaze-evoked nystagmus Difficulty running Slow saccadic eye movements Visceromegaly Aplasia/Hypoplasia of the abdominal wall musculature Developmental regression Mitral valve prolapse Paralysis Abnormal pyramidal sign Skin rash Retinal degeneration Bruising susceptibility Sleep disturbance Tetraplegia Chorea Neuronal loss in central nervous system Oligohydramnios Spastic tetraplegia Spastic dysarthria Intellectual disability, profound Clumsiness Schizophrenia Dysphonia Athetosis Prolonged neonatal jaundice Neurofibrillary tangles Loss of speech Trismus Supranuclear gaze palsy Focal white matter lesions


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