Dysarthria, and Cirrhosis

Diseases related with Dysarthria and Cirrhosis

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

Top matches:

Ribose-5-P isomerase deficiency is an extremely rare, hereditary, disorder of pentose phosphate metabolism characterized by progressive leukoencephalopathy and a highly increased ribitol and D-arabitol levels in the brain and body fluids. Clinical presentation includes psychomotor delay, epilepsy, and childhood-onset slow neurological regression with ataxia, spasticity, optic atrophy and sensorimotor neuropathy.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Ataxia
  • Nystagmus
  • Spasticity


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about RIBOSE-5-P ISOMERASE DEFICIENCY

Medium match ACERULOPLASMINEMIA

Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms.

ACERULOPLASMINEMIA Is also known as hereditary ceruloplasmin deficiency

Related symptoms:

  • Ataxia
  • Spasticity
  • Cognitive impairment
  • Anemia
  • Delayed speech and language development


SOURCES: OMIM ORPHANET MENDELIAN

More info about ACERULOPLASMINEMIA

Congenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis (see this term) characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease.

CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 4 Is also known as 2-methylacyl-coa racemase deficiency|amacr deficiency|basd4|alpha-methyl-acyl-coa racemase deficiency|liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Ataxia
  • Cataract
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 4

Other less relevant matches:

Retinal vasculopathy and cerebral leukodystrophy (RVCL) is an inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS; see these terms); all exhibiting progressive visual impairment as well as variable cerebral dysfunction.

RETINAL VASCULOPATHY WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS Is also known as retinopathy, vascular, with cerebral and renal involvement and raynaud and migraine phenomena|cerebroretinal vasculopathy, hereditary|crv|retinal vasculopathy and cerebral leukoencephalopathy|rvcl|rvcl-s

Related symptoms:

  • Seizures
  • Ataxia
  • Neoplasm
  • Pain
  • Visual impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about RETINAL VASCULOPATHY WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS

Medium match HARTNUP DISEASE

Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine).

HARTNUP DISEASE Is also known as aminoaciduria, hartnup type|hartnup disease|hartnup disorder

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about HARTNUP DISEASE

Hypermanganesemia with dystonia-1 is an autosomal recessive metabolic disorder characterized by increased serum manganese, motor neurodegeneration with extrapyramidal features, polycythemia, and hepatic dysfunction, which leads to cirrhosis in some cases. Intellectual function is preserved (summary by Tuschl et al., 2012 and Quadri et al., 2012). Genetic Heterogeneity of Hypermanganesemia With DystoniaSee also HMNDYT2 (OMIM ), caused by mutation in the SLC39A14 gene (OMIM ) on chromosome 8p21.

CIRRHOSIS-DYSTONIA-POLYCYTHEMIA-HYPERMANGANESEMIA SYNDROME Is also known as hmdpc|hypermanganesemia with dystonia, polycythemia, and cirrhosis

Related symptoms:

  • Microcephaly
  • Ataxia
  • Hypertension
  • Peripheral neuropathy
  • Hepatomegaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CIRRHOSIS-DYSTONIA-POLYCYTHEMIA-HYPERMANGANESEMIA SYNDROME

Mitochondrial NeuroGastroIntestinal Encephalomyopathy (MNGIE) syndrome is characterized by the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy.

MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY Is also known as myoneurogastrointestinal encephalopathy syndrome|polip syndrome|mitochondrial neurogastrointestinal encephalopathy syndrome, tymp-related|polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudoobstruction|mngie|mngie, tymp-related

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY

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

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

Medium match COATS PLUS SYNDROME

Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is transmitted as an autosomal recessive disease.

COATS PLUS SYNDROME Is also known as cerebroretinal microangiopathy with calcifications and cysts|coats plus syndrome|crmcc

Related symptoms:

  • Seizures
  • Short stature
  • Scoliosis
  • Ataxia
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about COATS PLUS SYNDROME

Top 5 symptoms//phenotypes associated to Dysarthria and Cirrhosis

Symptoms // Phenotype % cases
Ataxia Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Tremor Common - Between 50% and 80% cases
Spasticity Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Dystonia Behavioral abnormality Intellectual disability Anemia Cognitive impairment Gait disturbance Hepatomegaly Dementia Leukoencephalopathy Peripheral neuropathy Abnormality of the liver Polyneuropathy Sensorimotor neuropathy Mental deterioration Visual impairment Hyperreflexia Elevated hepatic transaminase Growth delay Hemiparesis Headache Abnormality of movement Confusion Leukodystrophy Jaundice Abnormality of extrapyramidal motor function Vomiting Retinopathy Neurodegeneration Hypergonadotropic hypogonadism Migraine Gait ataxia Abnormality of the cerebral white matter Optic atrophy Depressivity Diarrhea Generalized hypotonia Hypertonia Muscular hypotonia

Rare Symptoms - Less than 30% cases

Ptosis Pain Neoplasm Ascites Portal hypertension Abnormality of coagulation Gastroesophageal reflux Skin rash Spastic paraparesis Paraparesis Malabsorption Hepatic steatosis Emotional lability Psychosis Intention tremor Edema Neuronal loss in central nervous system Decreased liver function Pneumonia Retinal hemorrhage Micronodular cirrhosis Sensory impairment Abnormal pyramidal sign Hypertension Abdominal distention Hepatosplenomegaly Splenomegaly Neurological speech impairment Retinal exudate Osteoporosis Short stature Telangiectasia Thrombocytopenia Intrauterine growth retardation Strabismus Gastrointestinal hemorrhage Lower limb muscle weakness Microcephaly Nausea Distal sensory impairment Cataract Nystagmus Hypogonadotrophic hypogonadism Ophthalmoplegia Weight loss Delayed speech and language development Dysphagia Difficulty walking Rigidity Retinal degeneration Parkinsonism Chorea Memory impairment Abnormality of the vasculature Chronic diarrhea Irritability Aminoaciduria Photophobia Hypogonadism Esophageal varix Peripheral axonal neuropathy Unsteady gait Encephalopathy Progressive neurologic deterioration Decreased sensory nerve conduction velocity Multiple mitochondrial DNA deletions Malnutrition Generalized tonic-clonic seizures Bruising susceptibility Sleep disturbance Schizophrenia Decreased motor nerve conduction velocity Clumsiness Ophthalmoparesis Diffuse leukoencephalopathy Abnormality of mitochondrial metabolism Bilateral ptosis External ophthalmoplegia Abnormality of the hand Macrovesicular hepatic steatosis Cachexia Decreased muscle mass Polycystic ovaries Oligohydramnios Mitral valve prolapse Spastic tetraplegia Easy fatigability Ragged-red muscle fibers Intellectual disability, profound Tetraplegia Gastroparesis Paralysis Slender build Intermittent diarrhea Atrophic muscularis propria Abnormal cell morphology Hyperalaninemia Intestinal pseudo-obstruction Decreased number of large peripheral myelinated nerve fibers Abnormality of the extraocular muscles Abnormality of the mitochondrion Skeletal myopathy Small intestinal dysmotility Gastrointestinal dysmotility Demyelinating peripheral neuropathy Absent Achilles reflex Abnormality of the gastrointestinal tract Developmental regression Increased CSF protein Progressive external ophthalmoplegia Mitochondrial myopathy Myoclonus Poor appetite Scleroderma Cytochrome C oxidase-negative muscle fibers Intestinal perforation Subsarcolemmal accumulations of abnormally shaped mitochondria Difficulty climbing stairs Neonatal hypotonia Abnormality of the nervous system Hypointensity of cerebral white matter on MRI Axonal degeneration Fatal liver failure in infancy Dysphonia Impairment of galactose metabolism Postnatal growth retardation Osteopenia Blindness Scoliosis Increased level of galactonate in red blood cells Increased level of galactitol in urine Increased level of galactitol in red blood cells Increased level of galactitol in plasma Speech articulation difficulties Small for gestational age Galactosuria Food intolerance Albuminuria Hyperchloremic metabolic acidosis Hypergalactosemia Decreased fertility in females Vitreous hemorrhage Abnormality of the ovary Sparse hair Nail dystrophy Neoplasm of the liver Hematochezia Spastic hemiparesis Exudative retinopathy Retinal telangiectasia Metaphyseal sclerosis Intestinal bleeding Morphological abnormality of the pyramidal tract Oral leukoplakia Calcinosis Pathologic fracture Genu valgum Short femoral neck Hemiplegia Increased susceptibility to fractures Bone marrow hypocellularity Thin skin Cerebral calcification Febrile seizures Nail dysplasia Recurrent fractures Speech apraxia Edema of the lower limbs Athetosis Visceromegaly Sea-blue histiocytosis Congenital thrombocytopenia Fetal ascites Rapid neurologic deterioration Bone-marrow foam cells Supranuclear ophthalmoplegia Cataplexy Vertical supranuclear gaze palsy Foam cells Abnormal cholesterol homeostasis Aplasia/Hypoplasia of the abdominal wall musculature Spastic dysarthria Supranuclear gaze palsy Head tremor Trismus Loss of speech Neurofibrillary tangles Prolonged neonatal jaundice Foam cells in visceral organs and CNS Low cholesterol esterification rates Renal tubular dysfunction Sepsis Abnormality of the coagulation cascade Nephritis Premature ovarian insufficiency Abnormality of the voice Failure to thrive in infancy Shock Anorexia Abnormal bleeding Metabolic acidosis Failure to thrive Hemolytic anemia Hepatic failure Nausea and vomiting Lethargy Feeding difficulties in infancy Hypoglycemia Abnormality of metabolism/homeostasis Renal insufficiency Feeding difficulties Foot dorsiflexor weakness Steppage gait Peripheral demyelination Fat malabsorption Hematuria Nephropathy Stroke Proteinuria Reduced visual acuity Visual loss Biliary tract abnormality Iris hypopigmentation Apraxia Atrophy/Degeneration affecting the brainstem Agitation Apathy Bilateral single transverse palmar creases Cholestasis Status epilepticus Type II diabetes mellitus Progressive visual loss Sinusitis Coma Brain neoplasm Diminished ability to concentrate Progressive forgetfulness Focal white matter lesions Vasculitis in the skin Central nervous system degeneration Limb pain Abnormality of the retinal vasculature Macular edema Vasculitis Raynaud phenomenon Chronic sinusitis Aseptic necrosis Abnormality of the periventricular white matter Glomerulopathy Lower limb hyperreflexia Elevated erythrocyte sedimentation rate Pigmentary retinopathy Sensory neuropathy Fever Increased level of D-threitol in plasma Diabetes mellitus Congestive heart failure Respiratory distress Fatigue Decreased level of erythritol in urine Decreased level of erythritol in CSF Increased level of xylitol in CSF Increased level of ribitol in CSF Poor speech Increased level of D-threitol in urine Increased level of D-threitol in CSF Increased level of ribose in urine Increased level of ribitol in urine Increased level of xylitol in urine Elevated circulating ribitol concentration Increased level of ribose in CSF Hypothyroidism Involuntary movements Rod-cone dystrophy Scanning speech Frontal bossing Epicanthus Aceruloplasminemia Decreased serum iron Elevated hepatic iron concentration Decreased serum ceruloplasmin Refractory anemia Cogwheel rigidity Type I diabetes mellitus Blepharospasm Increased serum ferritin Muscle fibrillation Polyuria Slurred speech Hyperkinesis Cerebral palsy Torticollis Punctate vasculitis skin lesions Hydrocephalus Distal amyotrophy Hepatic encephalopathy Decreased serum ferritin Pica Abnormality of amino acid metabolism Abnormal basal ganglia MRI signal intensity Abnormal globus pallidus morphology Vitamin E deficiency Unconjugated hyperbilirubinemia Hyperglycinemia Copper accumulation in liver Abnormal myelination Poor fine motor coordination Prolonged prothrombin time Astrocytosis Echolalia Hypomimic face Action tremor Increased total iron binding capacity Abnormal transferrin saturation Limb dystonia Acidosis Lactic acidosis Paresthesia Abnormality of eye movement Limb muscle weakness Muscular dystrophy Distal muscle weakness Proximal muscle weakness Abdominal pain Abnormality of divalent inorganic cation homeostasis Constipation Areflexia Myopathy Skeletal muscle atrophy Muscle weakness Sensorineural hearing impairment Hearing impairment Generalized dystonia Polycythemia EEG abnormality Hallucinations Gingivitis Delusions Irregular hyperpigmentation Insomnia Encephalitis Abnormality of vision Hypopigmented skin patches Diplopia Episodic ataxia Inflammatory abnormality of the skin Cutaneous photosensitivity Abnormal blistering of the skin Aciduria Vertigo Abnormality of the eye Anxiety Bruxism Methylmalonic aciduria Axonal loss Dysmetria Toe walking Dysdiadochokinesis Hyperbilirubinemia Truncal ataxia Bradykinesia Gliosis Postural instability Hypertrophic cardiomyopathy Abnormal urinary color Cardiomyopathy Neutral hyperaminoaciduria Grasp reflex Glabellar reflex Hyperphenylalaninemia Neural tube defect Glossitis Mood changes Decreased pulmonary function


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Thick eyebrow, related diseases and genetic alterations