Cardiomyopathy, and Confusion

Diseases related with Cardiomyopathy and Confusion

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


Top matches:

Medium match HYPERINSULINISM DUE TO SHORT CHAIN 3-HYDROXYLACYL-COA DEHYDROGENASE DEFICIENCY


Hyperinsulinism due to short chain 3 hydroxylacyl-CoA dehydrogenase (SCHAD) deficiency is a recently described mitochondrial fatty acid oxidation disorder characterized by hyperinsulinemic hypoglycemia with seizures, and in one case fulminant hepatic failure.

HYPERINSULINISM DUE TO SHORT CHAIN 3-HYDROXYLACYL-COA DEHYDROGENASE DEFICIENCY Is also known as hyperinsulinism due to glutamodehydrogenase deficiency|hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-coa dehydrogenase deficiency|schad deficiency|hyperinsulinism due to schad deficiency

Related symptoms:

  • Failure to thrive
  • Motor delay
  • Peripheral neuropathy
  • Intrauterine growth retardation
  • Vomiting


SOURCES: ORPHANET MENDELIAN

More info about HYPERINSULINISM DUE TO SHORT CHAIN 3-HYDROXYLACYL-COA DEHYDROGENASE DEFICIENCY

Medium match SYSTEMIC PRIMARY CARNITINE DEFICIENCY


Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma.

SYSTEMIC PRIMARY CARNITINE DEFICIENCY Is also known as cud|carnitine uptake deficiency|carnitine transporter defect|systemic carnitine deficiency|deficiency of plasma-membrane carnitine transporter|scd|carnitine deficiency, primary|carnitine deficiency, systemic, due to defect in renal reabsorption of carniti

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SYSTEMIC PRIMARY CARNITINE DEFICIENCY

Medium match CEROID LIPOFUSCINOSIS, NEURONAL, 3; CLN3


The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005).The hallmark of CLN3 is the ultrastructural pattern of lipopigment with a 'fingerprint' profile, which can have 3 different appearances: pure within a lysosomal residual body; in conjunction with curvilinear or rectilinear profiles; and as a small component within large membrane-bound lysosomal vacuoles. The combination of fingerprint profiles within lysosomal vacuoles is a regular feature of blood lymphocytes from patients with CLN3 (Mole et al., 2005).For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (OMIM ).

CEROID LIPOFUSCINOSIS, NEURONAL, 3; CLN3 Is also known as vogt-spielmeyer disease|batten disease|spielmeyer-sjogren disease|jncl|neuronal ceroid lipofuscinosis, juvenile

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Nystagmus
  • Muscular hypotonia


SOURCES: OMIM MENDELIAN

More info about CEROID LIPOFUSCINOSIS, NEURONAL, 3; CLN3

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Other less relevant matches:

Medium match MCLEOD NEUROACANTHOCYTOSIS SYNDROME


McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens.

MCLEOD NEUROACANTHOCYTOSIS SYNDROME Is also known as mls|x-linked mcleod syndrome

Related symptoms:

  • Seizures
  • Short stature
  • Muscle weakness
  • Cognitive impairment
  • Anemia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MCLEOD NEUROACANTHOCYTOSIS SYNDROME

Medium match MYOTONIC DYSTROPHY 2; DM2


Myotonic dystrophy (DM) is a multisystem disorder and the most common form of muscular dystrophy in adults. Individuals with DM2 have muscle pain and stiffness, progressive muscle weakness, myotonia, male hypogonadism, cardiac arrhythmias, diabetes, and early cataracts. Other features may include cognitive dysfunction, hypersomnia, tremor, and hearing loss (summary by Heatwole et al., 2011).See also myotonic dystrophy-1 (DM1 ), caused by an expanded CTG repeat in the dystrophia myotonica protein kinase gene (DMPK ) on 19q13.Although originally reported as 2 disorders, myotonic dystrophy-2 and proximal myotonic myopathy are now referred to collectively as DM2 (Udd et al., 2003).

MYOTONIC DYSTROPHY 2; DM2 Is also known as promm|proximal myotonic myopathy|dystrophia myotonica 2|myotonic myopathy, proximal|ricker syndrome

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Muscle weakness
  • Pain
  • Cataract


SOURCES: ORPHANET OMIM MENDELIAN

More info about MYOTONIC DYSTROPHY 2; DM2

Medium match RECURRENT METABOLIC ENCEPHALOMYOPATHIC CRISES-RHABDOMYOLYSIS-CARDIAC ARRHYTHMIA-INTELLECTUAL DISABILITY SYNDROME


Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome is a rare, genetic, neurodegenerative disease characterized by episodic metabolic encephalomyopathic crises (of variable frequency and severity which are frequently precipitated by an acute illness) which manifest with profound muscle weakness, ataxia, seizures, cardiac arrhythmias, rhabdomyolysis with myoglobinuria, elevated plasma creatine kinase, hypoglycemia, lactic acidosis, increased acylcarnitines and a disorientated or comatose state. Global developmental delay, intellectual disability and cortical, pyramidal and cerebellar signs develop with subsequent progressive neurodegeneration causing loss of expressive language and varying degrees of cerebral atrophy.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about RECURRENT METABOLIC ENCEPHALOMYOPATHIC CRISES-RHABDOMYOLYSIS-CARDIAC ARRHYTHMIA-INTELLECTUAL DISABILITY SYNDROME

Medium match 3-METHYLGLUTACONIC ACIDURIA TYPE 1


3-methylglutaconic aciduria (3-MGA) type I is an inborn error of leucine metabolism with a variable clinical phenotype ranging from mildly delayed speech to psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia.

3-METHYLGLUTACONIC ACIDURIA TYPE 1 Is also known as 3-methylglutaconyl-coa hydratase deficiency|3mg-coa hydratase deficiency|mga1|3-mg-coa-hydratase deficiency|mga, type i

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about 3-METHYLGLUTACONIC ACIDURIA TYPE 1

Medium match AUTOSOMAL RECESSIVE PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA


Progressive external ophthalmoplegia (PEO) is characterized by multiple mitochondrial DNA (mtDNA) deletions in skeletal muscle. The most common clinical features include adult-onset of weakness of the external eye muscles and exercise intolerance. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. Less common features include mitral valve prolapse, cardiomyopathy, and gastrointestinal dysmotility. Both autosomal dominant and autosomal recessive inheritance can occur; autosomal recessive inheritance is usually more severe (Filosto et al., 2003; Luoma et al., 2004).Drachman (1975) gave a classification of disorders associated with progressive external ophthalmoplegia, which he termed 'ophthalmoplegia plus' (Drachman, 1968). Genetic Heterogeneity of Autosomal Recessive External Ophthalmoplegia with Mitochondrial DNA DeletionsSee also PEOB2 (OMIM ), caused by mutation in the RNASEH1 gene (OMIM ) on chromosome 2p25; PEOB3 (OMIM ), caused by mutation in the TK2 gene (OMIM ) on chromosome 16q21; PEOB4 (OMIM ), caused by mutation in the DGUOK gene (OMIM ) on chromosome 2p13; and PEOB5 (OMIM ), caused by mutation in the TOP3A gene (OMIM ) on chromosome 17p11.

AUTOSOMAL RECESSIVE PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA Is also known as arpeo|progressive external ophthalmoplegia, autosomal recessive 1

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Muscle weakness
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA

Medium match MELAS


MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.

MELAS Is also known as mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes|melas syndrome|mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MELAS

Low match SEVERE EARLY-ONSET PULMONARY ALVEOLAR PROTEINOSIS DUE TO MARS DEFICIENCY


Infantile liver failure syndrome-2 is an autosomal recessive disorder characterized by recurrent episodes of acute liver failure during intercurrent febrile illness. Patients first present in infancy or early childhood, and there is complete recovery between episodes with conservative treatment (summary by Haack et al., 2015).For a discussion of genetic heterogeneity of infantile liver failure syndrome, see ILFS1 (OMIM ).

SEVERE EARLY-ONSET PULMONARY ALVEOLAR PROTEINOSIS DUE TO MARS DEFICIENCY Is also known as interstitial lung and liver disease|pap, reunion island type|pulmonary alveolar proteinosis, reunion island type|hereditary pulmonary alveolar proteinosis with hepatic involvement

Related symptoms:

  • Seizures
  • Cardiomyopathy
  • Vomiting
  • Encephalopathy
  • Jaundice


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE EARLY-ONSET PULMONARY ALVEOLAR PROTEINOSIS DUE TO MARS DEFICIENCY

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Confusion

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Dilated cardiomyopathy Common - Between 50% and 80% cases
Cognitive impairment Common - Between 50% and 80% cases
Elevated serum creatine phosphokinase Common - Between 50% and 80% cases
Myopathy Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Cardiomyopathy and Confusion. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Encephalopathy

Uncommon Symptoms - Between 30% and 50% cases


Cerebral atrophy

Common Symptoms - More than 50% cases


Muscle weakness

Uncommon Symptoms - Between 30% and 50% cases


Dysarthria Dystonia Hypertrophic cardiomyopathy Elevated hepatic transaminase Optic atrophy Arrhythmia Cataract Hearing impairment Intellectual disability Dementia Hepatomegaly Fatigue Depressivity Congestive heart failure Hypoglycemia Mental deterioration Gait ataxia Ataxia Tremor Anxiety Failure to thrive Hyperammonemia Peripheral neuropathy Memory impairment Vomiting Dysphagia Lethargy Global developmental delay Coma Areflexia Lactic acidosis Short stature Left ventricular hypertrophy Microcephaly Muscular hypotonia Feeding difficulties in infancy Cerebellar atrophy Acidosis Visual impairment Gait disturbance Hypogonadism Nystagmus Ptosis Rhabdomyolysis Pigmentary retinopathy Motor delay Pain Abnormal cerebellum morphology Mildly elevated creatine phosphokinase Cardiac arrest Abnormality of the cerebral white matter Parkinsonism Generalized hypotonia Paresthesia Visual loss Generalized-onset seizure

Rare Symptoms - Less than 30% cases


Personality changes Involuntary movements Emotional lability Atrial fibrillation Hypertonia Sensory axonal neuropathy Lower limb muscle weakness Abnormality of movement Rigidity Dyspnea Ventricular fibrillation Hallucinations Sensorineural hearing impairment Increased muscle fatiguability Mask-like facies Stroke Ophthalmoplegia Peripheral axonal neuropathy Exercise intolerance External ophthalmoplegia Ragged-red muscle fibers Ophthalmoparesis Mitochondrial myopathy Limb ataxia Progressive external ophthalmoplegia Stroke-like episode Hemianopia Muscle fiber atrophy Abnormal nerve conduction velocity Homonymous hemianopia Jaundice Hyporeflexia Hyperreflexia Hypertension Sudden cardiac death Skeletal muscle atrophy Diabetes mellitus Proximal muscle weakness Myalgia Distal muscle weakness Limb muscle weakness Tachycardia Leukoencephalopathy Growth delay Increased variability in muscle fiber diameter Hypothyroidism Nephropathy Neurodegeneration Metabolic acidosis Increased serum lactate Spastic tetraplegia Clonus Anemia Gastroesophageal reflux Myoclonus Clumsiness Behavioral abnormality Ketonuria Decreased plasma carnitine Hypoketotic hypoglycemia Blindness Progressive visual loss Skeletal myopathy Acute hepatic failure Psychosis Macular degeneration Mutism Neonatal hypoglycemia Rod-cone dystrophy Myoglobinuria Abdominal pain Hepatic steatosis Easy fatigability Ventricular hypertrophy Feeding difficulties Prolonged QT interval Psychomotor deterioration Fever Diarrhea Hemiparesis Postural instability Muscle cramps Status epilepticus Generalized myoclonic seizures Hip dysplasia Pulmonary arterial hypertension Type II diabetes mellitus Specific learning disability Nephrotic syndrome Sensory impairment Bilateral sensorineural hearing impairment Abnormality of the cardiovascular system Cerebral calcification Amenorrhea Migraine Oromandibular dystonia Cerebral visual impairment Hypertrichosis Pancreatitis Chronic kidney disease Growth abnormality Hyperkinesis Goiter Schizophrenia Hypopigmented skin patches Ischemic stroke Reduced tendon reflexes Purpura Decreased body weight Type I diabetes mellitus Hypogonadotrophic hypogonadism Generalized hirsutism EMG abnormality Truncal ataxia Hirsutism Abnormality of retinal pigmentation Gingival overgrowth Anorexia Polyneuropathy Carious teeth Polymicrogyria Kyphosis Autism Weight loss Cerebral cortical atrophy Osteoporosis Cerebellar hypoplasia Constipation Delayed skeletal maturation Headache Renal insufficiency Abnormality of the dentition Photophobia Respiratory distress Short neck Respiratory insufficiency Ventriculomegaly Hypertelorism Sensory ataxic neuropathy Progressive ophthalmoplegia Subsarcolemmal accumulations of abnormally shaped mitochondria Multiple mitochondrial DNA deletions Intrauterine growth retardation EEG abnormality Nausea Generalized tonic-clonic seizures Vertigo Ichthyosis Dysmetria Anal atresia Delayed puberty Malabsorption Nausea and vomiting Congenital cataract Arthrogryposis multiplex congenita Pruritus Proteinuria Neurological speech impairment Attention deficit hyperactivity disorder Nyctalopia Abnormality of the liver Erythema Protruding ear Abnormality of the pinna Developmental regression Apnea Atrioventricular block Aortic aneurysm Cachexia Episodic vomiting Auditory hallucinations Amaurosis fugax Gastroparesis Spontaneous hematomas Leber optic atrophy Persistence of primary teeth Writer's cramp Dysesthesia Motor polyneuropathy Abnormality of the renal tubule Tubulointerstitial abnormality Ileus Proximal tubulopathy Abnormality of peripheral nerve conduction Retinal pigment epithelial atrophy Speech apraxia Left ventricular failure Seborrheic dermatitis Anterior hypopituitarism Gait imbalance Reduced consciousness/confusion Renal Fanconi syndrome Psychotic episodes Wolff-Parkinson-White syndrome Paralytic ileus Abnormality of the gastrointestinal tract Abnormality of the coagulation cascade Hepatic failure Prominent ear helix Morphological abnormality of the inner ear Morphological abnormality of the vestibule of the inner ear Bilateral intracranial calcifications Episodic quadriplegia Abnormality of acid-base homeostasis Abnormal cochlea morphology Abnormal mitochondrial shape Abnormality of the cerebellar vermis Cochlear degeneration Progressive night blindness Cochlear malformation Edema of the dorsum of hands Abnormal mitochondrial morphology Paronychia Spotty hypopigmentation Abnormal macular morphology Hemeralopia Crohn's disease Cerebral ischemia Increased CSF lactate Decreased nerve conduction velocity Abnormality of neuronal migration Multiple lipomas Visual field defect Hyperkalemia Dysphasia Vestibular dysfunction Aphasia Bundle branch block Adrenal insufficiency Overlapping toe Focal segmental glomerulosclerosis Progressive sensorineural hearing impairment Hemiplegia/hemiparesis Bifid scrotum Aplasia/Hypoplasia of the cerebellum Intestinal obstruction Hyponatremia Abnormality of mitochondrial metabolism Stooped posture Hemiplegia Bilateral ptosis Hypercalciuria Vertebral fusion Glomerulopathy Visual hallucinations Xerostomia Tubulointerstitial nephritis Renal tubular dysfunction Aortic dissection Facial diplegia Cardiorespiratory arrest Delusions Transient ischemic attack Posterior subcapsular cataract Hypoparathyroidism Heart block Vitiligo Basal ganglia calcification Abnormality of visual evoked potentials Hashimoto thyroiditis Atopic dermatitis Drowsiness Distal arthrogryposis Pulmonary embolism Primary adrenal insufficiency Abnormality of immune system physiology Thyroiditis Hyperthyroidism Impaired distal proprioception Cogwheel rigidity Optic neuritis Recurrent singultus Acute encephalopathy Reye syndrome-like episodes Impaired gluconeogenesis Reduced muscle carnitine level Irregular respiration Abnormality of the astrocytes Hyporeflexia of upper limbs Abnormal facial expression Blood group antigen abnormality Abnormal corpus striatum morphology Fasting hypoglycemia Caudate atrophy Abnormal lactate dehydrogenase activity Abnormal social behavior Impaired temperature sensation Generalized limb muscle atrophy Personality disorder Decreased carnitine level in liver Hyporeflexia of lower limbs Excessive salivation Generalized tonic-clonic seizures with focal onset Endocardial fibroelastosis Tics Epiphora Arteriosclerosis Neck flexor weakness IgM deficiency Elevated circulating follicle stimulating hormone level Male hypogonadism Oligospermia IgG deficiency Neurofibrillary tangles Decreased muscle mass Myotonia Muscular dystrophy Neck muscle weakness Hypercholesterolemia Spontaneous abortion Progressive muscle weakness Palpitations Decreased antibody level in blood Excessive daytime somnolence Infertility Recurrent hypoglycemia Orofacial dyskinesia Acanthocytosis Type 2 muscle fiber atrophy Vegetative state Hepatosplenomegaly Progressive encephalopathy Hyperhidrosis Babinski sign Aspiration pneumonia Splenomegaly Pendular nystagmus Undetectable electroretinogram Tapetoretinal degeneration Progressive inability to walk Aspiration Increased extraneuronal autofluorescent lipopigment Cerebral degeneration Fingerprint intracellular accumulation of autofluorescent lipopigment storage material Presenile cataracts Curvilinear intracellular accumulation of autofluorescent lipopigment storage material Concentric hypertrophic cardiomyopathy Increased neuronal autofluorescent lipopigment Intracellular accumulation of autofluorescent lipopigment storage material Autophagic vacuoles Retinal atrophy Hemolytic anemia Supraventricular tachycardia Pneumonia Motor axonal neuropathy Left bundle branch block Ventricular extrasystoles Bipolar affective disorder Insomnia Restlessness Impaired pain sensation Impaired vibration sensation in the lower limbs Bowel incontinence Obsessive-compulsive behavior Dyskinesia Ventricular arrhythmia Sleep apnea Glaucoma Sensorimotor neuropathy Retinal degeneration Nevus Neuronal loss in central nervous system Chorea Sensory neuropathy Hypersomnia Frontal balding Impaired distal vibration sensation Distal sensory impairment EMG: myopathic abnormalities Respiratory insufficiency due to muscle weakness Scapular winging Prolonged prothrombin time Muscle stiffness Mitral regurgitation Mitral valve prolapse Bradykinesia Generalized muscle weakness Hypoglycemic seizures Hyperinsulinemic hypoglycemia Dicarboxylic aciduria Fasting hyperinsulinemia Facial palsy Pes cavus Hepatic necrosis Progressive forgetfulness Hyperchloremic acidosis Testicular dysgenesis Nonprogressive cerebellar ataxia Dysphonia Postural tremor Abnormality of the basal ganglia Vacuolated lymphocytes Cytochrome C oxidase-negative muscle fibers Muscle fiber necrosis Abnormality of the cerebrospinal fluid Neonatal hypotonia Neuritis Weak voice Positive Romberg sign Hand muscle weakness Parkinsonism with favorable response to dopaminergic medication Gastrointestinal dysmotility Steppage gait Proportionate short stature Shuffling gait Action tremor Dyschromatopsia Progressive proximal muscle weakness Increased CSF protein Abnormality of the periventricular white matter Abnormal retinal morphology Generalized amyotrophy 3-Methylglutaconic aciduria Short attention span Diffuse leukoencephalopathy Ventricular tachycardia Acute rhabdomyolysis Prolonged QTc interval Torsade de pointes Poor coordination Hyperactive deep tendon reflexes Spastic diplegia Myopathic facies Oral-pharyngeal dysphagia Drooling Increased C-peptide level Elevated plasma acylcarnitine levels Recurrent respiratory infections Irritability Respiratory tract infection Cardiomegaly Absent speech Bradycardia Delayed gross motor development Iridescent posterior subcapsular cataract Insulin insensitivity Premature pubarche Premature thelarche Athetosis Tetraplegia Spastic tetraparesis Spastic paraparesis Paraparesis Decreased activity of 3-hydroxyacyl-CoA dehydrogenase Choreoathetosis Febrile seizures Aciduria Urinary incontinence Progressive cerebellar ataxia Neutropenia Abnormality of acetylcarnitine metabolism Unsteady gait Paraplegia Spastic paraplegia Severe global developmental delay Hypoglycemic encephalopathy Hyperactivity Recurrent infections Increased circulating free fatty acid level Delayed speech and language development Spasticity Hepatic encephalopathy



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