Dysarthria, and Proteinuria

Diseases related with Dysarthria and Proteinuria

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

Top matches:

Action myoclonus-renal failure syndrome (AMRF) is a rare epilepsy syndrome characterized by progressive myoclonus epilepsy in association with primary glomerular disease. Patients present with neurologic symptoms (including tremor, action myoclonus, tonic-clonic seizures, later ataxia and dysarthria) that may precede, occur simultaneously or be followed by renal manifestations including proteinuria that progresses to nephrotic syndrome and end-stage renal disease. In some patients, sensorimotor peripheral neuropathy, sensorineural hearing loss and dilated cardiomyopathy are associated symptoms.

ACTION MYOCLONUS-RENAL FAILURE SYNDROME Is also known as myoclonus-nephropathy syndrome|progressive myoclonic epilepsy type 4|epm4|amrf|action myoclonus-renal failure syndrome

Related symptoms:

  • Seizures
  • Ataxia
  • Anemia
  • Peripheral neuropathy
  • Dysarthria


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACTION MYOCLONUS-RENAL FAILURE SYNDROME

Medium match SLC35A1-CDG

SLC35A1-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage.

SLC35A1-CDG Is also known as cdg iif|congenital disorder of glycosylation type iif|cmp-sialic acid transporter deficiency|congenital disorder of glycosylation type 2f|cdg-iif|carbohydrate deficient glycoprotein syndrome type iif|cdg2f|cdg syndrome type iif|cdgiif

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SLC35A1-CDG

Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness.

MATERNALLY-INHERITED DIABETES AND DEAFNESS Is also known as ballinger-wallace syndrome|diabetes-deafness syndrome, maternally transmitted|mitochondrial diabetes|noninsulin-dependent diabetes mellitus with deafness|niddm with deafness|diabetes mellitus, type ii, with deafness|midd

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MATERNALLY-INHERITED DIABETES AND DEAFNESS

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 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

Primary CoQ10 deficiency is a rare, clinically heterogeneous autosomal recessive disorder caused by mutation in any of the genes encoding proteins directly involved in the synthesis of coenzyme Q (review by Quinzii and Hirano, 2011). Coenzyme Q10 (CoQ10), or ubiquinone, is a mobile lipophilic electron carrier critical for electron transfer by the mitochondrial inner membrane respiratory chain (Duncan et al., 2009).The disorder has been associated with 5 major phenotypes, but the molecular basis has not been determined in most patients with the disorder and there are no clear genotype/phenotype correlations. The phenotypes include an encephalomyopathic form with seizures and ataxia (Ogasahara et al., 1989); a multisystem infantile form with encephalopathy, cardiomyopathy and renal failure (Rotig et al., 2000); a predominantly cerebellar form with ataxia and cerebellar atrophy (Lamperti et al., 2003); Leigh syndrome with growth retardation (van Maldergem et al., 2002); and an isolated myopathic form (Lalani et al., 2005). The correct diagnosis is important because some patients may show a favorable response to CoQ10 treatment. Genetic Heterogeneity of Primary Coenzyme Q10 DeficiencySee also COQ10D2 (OMIM ), caused by mutation in the PDSS1 gene (OMIM ) on chromosome 10p12; COQ10D3 (OMIM ), caused by mutation in the PDSS2 gene (OMIM ) on chromosome 6q21; COQ10D4 (OMIM ), caused by mutation in the COQ8 gene (ADCK3 ) on chromosome 1q42; COQ10D5 (OMIM ), caused by mutation in the COQ9 gene (OMIM ) on chromosome 16q21; COQ10D6 (OMIM ), caused by mutation in the COQ6 gene (OMIM ) on chromosome 14q24; COQ10D7 (OMIM ), caused by mutation in the COQ4 gene (OMIM ) on chromosome 9q34; and COQ10D8 (OMIM ), caused by mutation in the COQ7 gene (OMIM ) on chromosome 16p13.Secondary CoQ10 deficiency has been reported in association with glutaric aciduria type IIC (MADD ), caused by mutation in the ETFDH gene (OMIM ) on chromosome 4q, and with ataxia-oculomotor apraxia syndrome-1 (AOA1 ), caused by mutation in the APTX gene (OMIM ) on chromosome 9p13.

COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1 Is also known as ubiquinone deficiency 1|coq10 deficiency, primary, 1|coq deficiency 1|coenzyme q deficiency 1

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1

Orofaciodigital syndrome type I (OFD1) is characterized by malformations of the face, oral cavity, and digits and is transmitted as an X-linked dominant condition with lethality in males. Thickened alveolar ridges and abnormal dentition, including absent lateral incisors, are additional characteristics of OFD1. The central nervous system may also be involved in as many as 40% of cases. Although these clinical features overlap those reported in other forms of orofaciodigital syndrome, OFD1 can be easily distinguished from among these by its X-linked dominant inheritance pattern and by polycystic kidney disease, which seems to be specific to type I (summary by Ferrante et al., 2001).Since the CXORF5 gene localizes to the centrosome and basal body of primary cilia, OFD1 is considered to be a ciliopathy (Chetty-John et al., 2010).

OROFACIODIGITAL SYNDROME I; OFD1 Is also known as oral-facial-digital syndrome, type i|papillon-leage and psaume syndrome|ofds i

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME I; OFD1

Complex IV (cytochrome c oxidase; {EC 1.9.3.1}) is the terminal enzyme of the respiratory chain and consists of 13 polypeptide subunits, 3 of which are encoded by mitochondrial DNA. The 3 mitochondrially encoded proteins in the cytochrome oxidase complex are the actual catalytic subunits that carry out the electron transport function (Saraste, 1983). See {123995} for discussion of some of the nuclear-encoded subunits.Shoubridge (2001) provided a comprehensive review of cytochrome c oxidase deficiency and noted that most isolated COX deficiencies are inherited as autosomal recessive disorders caused by mutations in nuclear-encoded genes; mutations in the mtDNA-encoded COX subunit genes are relatively rare.

ISOLATED CYTOCHROME C OXIDASE DEFICIENCY Is also known as isolated mitochondrial respiratory chain complex iv deficiency|cox deficiency|isolated cox deficiency|cytochrome c oxidase deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ISOLATED CYTOCHROME C OXIDASE DEFICIENCY

Medium match WILSON DISEASE

Wilson disease is a very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body.

WILSON DISEASE Is also known as wd|hepatolenticular degeneration|wnd

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Neoplasm
  • Failure to thrive
  • Spasticity


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about WILSON DISEASE

Cockayne syndrome is characterized by abnormal and slow growth and development that becomes evident within the first few years after birth. 'Cachectic dwarfism' describes the outward appearance of afflicted individuals. Other features include cutaneous photosensitivity, thin, dry hair, a progeroid appearance, progressive pigmentary retinopathy, sensorineural hearing loss, dental caries, and a characteristic stance in the ambulatory patient. Patients often show disproportionately long limbs with large hands and feet, and flexion contractures of joints are usual skeletal features. Knee contractures result in a 'horse-riding stance.' There is delayed neural development and severe progressive neurologic degeneration resulting in mental retardation. The mean age at death in reported cases is 12.5 years, although a few affected individuals have lived into their late teens or twenties. Remarkably, in striking contrast with xeroderma pigmentosum, patients with CS have no significant increase in skin cancer or infection (Nance and Berry, 1992).Lowry (1982) noted that there is an early-onset form of Cockayne syndrome in which patients may show abnormalities at birth and have a shorter survival. Lowry (1982) thus suggested that CS could be divided clinically into the more common type I, with classic CS symptoms that manifest within the first few years or life, and the less common type II, with more severe symptoms that manifest prenatally. Mallery et al. (1998) found no correlation between genotype and phenotype among 16 patients with CS of varying severities, and concluded that clinical differences were based on other genetic backgrounds or the intrauterine environment. Genetic Heterogeneity of Cockayne SyndromeCockayne syndrome is a genetically heterogeneous disorder, and certain types show some overlap with certain forms of xeroderma pigmentosum (XP), another disorder caused by defective DNA repair. See also Cockayne syndrome B (OMIM ), caused by mutation in the ERCC6 gene (OMIM ) on chromosome 10q11; XPG/CS (see {278780}), caused by mutation in the ERCC5 gene (OMIM ) on chromosome 13q33; XPB/CS (see {610651}), caused by mutation in the ERCC3 gene (OMIM ) on chromosome 2q21; and XPF/CS (see {278760}), caused by mutation in the ERCC4 gene (OMIM ) on chromosome 16p13.Rapin et al. (2000) reviewed the clinical, pathologic, and molecular features of Cockayne syndrome, xeroderma pigmentosum, and the XP-CS complex.

COCKAYNE SYNDROME TYPE 1 Is also known as cockayne syndrome type i

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about COCKAYNE SYNDROME TYPE 1

Top 5 symptoms//phenotypes associated to Dysarthria and Proteinuria

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Renal insufficiency Common - Between 50% and 80% cases
Tremor Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly Failure to thrive Global developmental delay Hepatomegaly Optic atrophy Glomerulopathy Hypertension Growth delay Spasticity Hepatic failure Cataract Aminoaciduria Sensorineural hearing impairment Anemia Hearing impairment Dementia Muscle weakness Neoplasm Generalized hypotonia Visual impairment Cerebral atrophy Progressive neurologic deterioration Renal tubular dysfunction Cardiomyopathy Cirrhosis Encephalopathy Respiratory distress Leukoencephalopathy Vomiting Nystagmus Hyperreflexia Pigmentary retinopathy Short stature Thrombocytopenia Decreased liver function Metabolic acidosis Nephropathy Gait disturbance Retinopathy Hypertrophic cardiomyopathy Edema Hypogonadism

Rare Symptoms - Less than 30% cases

Behavioral abnormality Progressive muscle weakness Exercise intolerance Visual loss Glycosuria Menstrual irregularities Stroke Status epilepticus Elevated hepatic transaminase Apraxia Aciduria Memory impairment Abnormal facial shape Hemiparesis Weight loss Neoplasm of the liver Failure to thrive in infancy Hypergonadotropic hypogonadism Anorexia Ascites Hemolytic anemia Nausea and vomiting Polyneuropathy Splenomegaly Abnormality of the liver Irritability Hepatosplenomegaly Jaundice Osteoporosis Lactic acidosis Feeding difficulties Cognitive impairment Muscular hypotonia Scoliosis Motor delay Retinal hemorrhage Skeletal muscle atrophy Fatigue Respiratory failure Acidosis Muscular hypotonia of the trunk Hyperphosphaturia Leukodystrophy Hypercalciuria Ragged-red muscle fibers Carious teeth Depressivity Myopathy Ptosis Glomerulosclerosis Coma Hepatic steatosis Focal segmental glomerulosclerosis Dilatation Kyphosis Arrhythmia Clinodactyly Sparse hair Abnormality of the cerebral white matter Pancytopenia Strabismus Abnormal bleeding Poor speech Decreased nerve conduction velocity Hydrocephalus Dry hair Unsteady gait Peripheral neuropathy Dysphagia Cerebellar atrophy Myoclonus Nephrotic syndrome Bilateral sensorineural hearing impairment Generalized tonic-clonic seizures Abnormality of the kidney Stage 5 chronic kidney disease Increased hepatocellular lipid droplets Proximal renal tubular acidosis Multiple glomerular cysts Ovarian cyst Alveolar ridge overgrowth Anxiety Gray matter heterotopias Arthritis Rigidity Hypothalamic hamartoma Porencephalic cyst Tongue nodules Abnormality of the pancreas Cytochrome C oxidase-negative muscle fibers Lobulated tongue Bifid tongue Increased intramyocellular lipid droplets Narrow naris Deviation of finger Difficulty walking Pancreatic cysts Dystonia Arthralgia Hepatic cysts Spastic hemiparesis Poor head control Renal Fanconi syndrome Exertional dyspnea Spastic tetraplegia Pulmonary arterial hypertension Congenital hip dislocation Severe muscular hypotonia Respiratory insufficiency due to muscle weakness Weak cry Tachypnea Polyuria Generalized muscle weakness Myotonia Spinal muscular atrophy Apathy Polydipsia Hemiplegia Hyperammonemia Poor suck Increased serum lactate Tetraplegia Hepatic encephalopathy Respiratory insufficiency Microvesicular hepatic steatosis Abnormality of toe Trident hand Respiratory arrest Thoracolumbar kyphosis Periventricular leukomalacia Ventriculomegaly Kyphoscoliosis Renal tubular acidosis Apnea Increased CSF lactate Hip dislocation Thoracolumbar scoliosis Limb muscle weakness Mitochondrial myopathy Progressive encephalopathy Abnormality of the nervous system Nephrocalcinosis Aggressive behavior Limitation of joint mobility Large hands Neoplasm of the skin Atherosclerosis Opacification of the corneal stroma Knee flexion contracture Cutaneous photosensitivity Cerebral calcification Peripheral demyelination Dental malocclusion Abnormality of skin pigmentation Reduced subcutaneous adipose tissue Dry skin Hypermetropia Abnormality of the pinna Mandibular prognathia Micropenis Severe short stature Intellectual disability, severe Intrauterine growth retardation Flexion contracture Cryptorchidism Anhidrosis Thickened calvaria Kayser-Fleischer ring Chorioretinitis Patchy demyelination of subcortical white matter Ivory epiphyses of the phalanges of the hand Peripheral dysmyelination Square pelvis bone Slender nose Increased cellular sensitivity to UV light Severe photosensitivity Normal pressure hydrocephalus Loss of facial adipose tissue Decreased lacrimation Retinal pigment epithelial mottling Basal ganglia calcification Delayed eruption of primary teeth Abnormal auditory evoked potentials CNS demyelination Hypoplasia of teeth Hypoplastic pelvis Hypoplastic iliac wing Progeroid facial appearance Atypical scarring of skin Severe postnatal growth retardation Abnormality of visual evoked potentials Atypical or prolonged hepatitis Mixed demyelinating and axonal polyneuropathy Pruritus Clumsiness Schizophrenia Drooling Leukopenia Myelomeningocele Spontaneous abortion Muscle stiffness Increased body weight Bone pain Nephrolithiasis Involuntary movements Cholestasis Back pain Osteoarthritis Psychosis Hepatitis Bruising susceptibility Joint hypermobility Nausea Peripheral axonal neuropathy Paresthesia Confusion Infertility Abnormality of the hand Abnormality of mitochondrial metabolism High nonceruloplasmin-bound serum copper Acute hepatic failure Acute hepatitis Hypersexuality Poor motor coordination Hypocupremia Premature osteoarthritis Abnormality of the menstrual cycle Retinoblastoma Proximal muscle weakness in lower limbs Esophageal varix Chondrocalcinosis Increased reactive oxygen species production Personality changes Hand tremor Hypoparathyroidism Hepatocellular carcinoma Joint swelling Abnormality of blood and blood-forming tissues Arthropathy Osteomalacia Pathologic fracture Global brain atrophy Oral-pharyngeal dysphagia Abnormal cortical gyration Glomerulonephritis Arachnoid cyst Abnormality of lipid metabolism Hematuria Lower limb muscle weakness Mental deterioration Reduced visual acuity Headache Pain Abnormal chorioretinal morphology Left bundle branch block Retinal atrophy Migraine Progressive sensorineural hearing impairment Abnormal retinal morphology Macular dystrophy Vestibular dysfunction Bundle branch block Hyperglycemia Aplasia/Hypoplasia of the cerebellum Constriction of peripheral visual field Sensory impairment Progressive visual loss Type II diabetes mellitus Abnormality of the retinal vasculature Diminished ability to concentrate Progressive forgetfulness Focal white matter lesions Vasculitis in the skin Retinal exudate Central nervous system degeneration Limb pain Micronodular cirrhosis Brain neoplasm Telangiectasia Macular edema Raynaud phenomenon Chronic sinusitis Aseptic necrosis Abnormality of the periventricular white matter Lower limb hyperreflexia Elevated erythrocyte sedimentation rate Vasculitis Sinusitis External ophthalmoplegia Vertigo Delayed speech and language development Abnormal glycosylation Hypotelorism Webbed neck Neutropenia Short philtrum Deeply set eye Pneumonia Hyporeflexia Mild proteinuria Normochromic anemia Aortic regurgitation Demyelinating peripheral neuropathy Action tremor Postural tremor Hypoalbuminemia Intention tremor Generalized-onset seizure Falls Gait ataxia Recurrent bacterial infections Heart murmur Retinal degeneration Abnormal platelet granules Malabsorption Ophthalmoplegia Myalgia Diabetes mellitus Constipation Congestive heart failure Decreased platelet glycoprotein Ib Abnormal megakaryocyte morphology Pulmonary hemorrhage Flat occiput Giant platelets Subcutaneous hemorrhage Macrothrombocytopenia Orofacial dyskinesia Hypoxemia Tics Cellulitis Prolonged bleeding time Hallux valgus Punctate vasculitis skin lesions Diarrhea Median cleft lip High palate Abnormal heart morphology Syndactyly Abnormality of the dentition Frontal bossing Downslanted palpebral fissures Wide nasal bridge Brachydactyly Epicanthus Low-set ears Agenesis of corpus callosum Cleft palate Micrognathia Hypertelorism Crescentic glomerulonephritis Rapid neurologic deterioration Exercise-induced myoglobinuria Recurrent myoglobinuria Glutaric aciduria Alopecia Polydactyly Scanning speech Cutaneous syndactyly Increased number of teeth Atrioventricular canal defect Nephronophthisis Agenesis of permanent teeth Milia Molar tooth sign on MRI Radial deviation of finger Polycystic kidney dysplasia Microretrognathia Telecanthus Hepatic fibrosis Hypoplasia of dental enamel Underdeveloped nasal alae Bifid uvula Abnormal cerebellum morphology Postaxial polydactyly Oral cleft Facial asymmetry Cleft lip Steroid-resistant nephrotic syndrome Tubular atrophy Abnormality of metabolism/homeostasis Nephritis Hypergalactosemia Decreased fertility in females Vitreous hemorrhage Abnormality of the ovary Speech apraxia Edema of the lower limbs Abnormality of coagulation Abnormality of the coagulation cascade Premature ovarian insufficiency Albuminuria Abnormality of the voice Shock Hypogonadotrophic hypogonadism Sepsis Abdominal distention Lethargy Neurological speech impairment Feeding difficulties in infancy Hypoglycemia Hyperchloremic metabolic acidosis Food intolerance Myoglobinuria Joint hyperflexibility Generalized amyotrophy Ophthalmoparesis Hyperextensible skin Oculomotor apraxia Specific learning disability Progressive cerebellar ataxia Muscle cramps Postural instability Abnormal pyramidal sign Galactosuria Rod-cone dystrophy Elevated serum creatine phosphokinase Intellectual disability, mild 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 Impairment of galactose metabolism Speech articulation difficulties Thymic hormone decreased


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