Cardiomyopathy, and Memory impairment

Diseases related with Cardiomyopathy and Memory impairment

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


Top matches:

Medium match SENSORY ATAXIC NEUROPATHY-DYSARTHRIA-OPHTHALMOPARESIS SYNDROME


Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome is characterised by adult-onset severe sensory ataxic neuropathy, dysarthria and chronic progressive external ophthalmoplegia.

SENSORY ATAXIC NEUROPATHY-DYSARTHRIA-OPHTHALMOPARESIS SYNDROME Is also known as sando

Related symptoms:


SOURCES: ORPHANET MENDELIAN

More info about SENSORY ATAXIC NEUROPATHY-DYSARTHRIA-OPHTHALMOPARESIS SYNDROME

Medium match ADULT-ONSET CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL MYOPATHY


Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy is a rare mitochondrial disease characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, manifestations of spinocerebellar ataxia (e.g. impaired gait, dysarthria) and mild motor peripheral neuropathy. Respiratory insufficiency has been reported in some cases.

ADULT-ONSET CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL MYOPATHY Is also known as adult-onset cpeo with mitochondrial myopathy

Related symptoms:


SOURCES: ORPHANET MENDELIAN

More info about ADULT-ONSET CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL MYOPATHY

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

Low 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

Low match PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3; PEOA3


Progressive external ophthalmoplegia is characterized by multiple mitochondrial DNA deletions in skeletal muscle. The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Patients with C10ORF2-linked adPEO may have other clinical features including proximal muscle weakness, ataxia, peripheral neuropathy, cardiomyopathy, cataracts, depression, and endocrine abnormalities (summary by Fratter et al., 2010).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant progressive external ophthalmoplegia, see PEOA1 (OMIM ).PEO caused by mutations in the POLG gene (OMIM ) are associated with more complicated phenotypes than those forms caused by mutations in the SLC25A4 (OMIM ) or C10ORF2 genes (Lamantea et al., 2002).

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3; PEOA3 Is also known as progressive external ophthalmoplegia, autosomal dominant 3

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3; PEOA3

Low match ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH1


ACTH-independent macronodular adrenal hyperplasia (AIMAH) is an endogenous form of adrenal Cushing syndrome characterized by multiple bilateral adrenocortical nodules that cause a striking enlargement of the adrenal glands. Although some familial cases have been reported, the vast majority of AIMAH cases are sporadic. Patients typically present in the fifth and sixth decades of life, approximately 10 years later than most patients with other causes of Cushing syndrome (Swain et al., 1998; Christopoulos et al., 2005).Approximately 10 to 15% of adrenal Cushing syndrome is due to primary bilateral ACTH-independent adrenocortical pathology. The 2 main subtypes are AIMAH and primary pigmented nodular adrenocortical disease (PPNAD, see {610489}), which is often a component of the Carney complex (OMIM ) and associated with mutations in the PRKAR1A gene (OMIM ) on chromosome 17q23-q24. AIMAH is rare, representing less than 1% of endogenous causes of Cushing syndrome (Swain et al., 1998; Christopoulos et al., 2005).See also ACTH-independent Cushing syndrome (OMIM ) due to somatic mutation in the PRKACA gene (OMIM ).Cushing 'disease' (OMIM ) is an ACTH-dependent disorder caused in most cases by pituitary adenomas that secrete excessive ACTH. Genetic Heterogeneity of ACTH-Independent Macronodular Adrenal HyperplasiaAIMAH2 (OMIM ) is caused by germline mutation of 1 allele of the ARMC5 gene (OMIM ) coupled with a somatic mutation in the other allele.

ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH1 Is also known as acth-independent macronodular adrenocortical hyperplasia|cushing syndrome, adrenal, due to aimah|corticotropin-independent macronodular adrenal hyperplasia|adrenocorticotropic hormone-independent macronodular adrenal hyperplasia

Related symptoms:

  • Neoplasm
  • Failure to thrive
  • Muscle weakness
  • Cataract
  • Visual impairment


SOURCES: OMIM MESH MENDELIAN

More info about ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH1

Low match CHOREOACANTHOCYTOSIS


Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances.

CHOREOACANTHOCYTOSIS Is also known as neuroacanthocytosis|chorea-acanthocytosis|chac|levine-critchley syndrome|acanthocytosis with neurologic disorder

Related symptoms:

  • Seizures
  • Short stature
  • Ataxia
  • Nystagmus
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHOREOACANTHOCYTOSIS

Low match COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1


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

Low match KEARNS-SAYRE SYNDROME


Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block.

KEARNS-SAYRE SYNDROME Is also known as ophthalmoplegia, pigmentary degeneration of retina, and cardiomyopathy|cpeo with myopathy|oculocraniosomatic syndrome|ophthalmoplegia, progressive external, with ragged-red fibers|cpeo with ragged-red fibers|chronic progressive external ophthalmoplegia wi

Related symptoms:

  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about KEARNS-SAYRE SYNDROME

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Memory impairment

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

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

Common Symptoms - More than 50% cases


Muscle weakness

Uncommon Symptoms - Between 30% and 50% cases


Myopathy

Common Symptoms - More than 50% cases


Cerebral atrophy

Uncommon Symptoms - Between 30% and 50% cases


Dysarthria

Common Symptoms - More than 50% cases


Cataract

Uncommon Symptoms - Between 30% and 50% cases


Ataxia Short stature Fatigue Skeletal muscle atrophy Nystagmus Dysphagia Mental deterioration Sensory neuropathy Anxiety Optic atrophy Peripheral neuropathy Visual loss Encephalopathy Parkinsonism Dystonia Hearing impairment Gait disturbance Dilated cardiomyopathy Failure to thrive Muscle cramps Sensorineural hearing impairment Limb muscle weakness Acidosis Diabetes mellitus Hypogonadism Hyporeflexia Areflexia Arrhythmia Hepatomegaly Abnormality of movement Global developmental delay Ragged-red muscle fibers Left ventricular hypertrophy Generalized hypotonia Muscular hypotonia Visual impairment Tremor Behavioral abnormality Bipolar affective disorder Rod-cone dystrophy Myoclonus Hypertrophic cardiomyopathy Confusion Ophthalmoparesis Psychosis

Rare Symptoms - Less than 30% cases


Severe global developmental delay Spasticity Microcephaly Metabolic acidosis Sensory axonal neuropathy Insomnia Motor delay Tics Caudate atrophy Neurodegeneration Orofacial dyskinesia Acanthocytosis Hyperreflexia Growth delay Intellectual disability Generalized muscle weakness Progressive cerebellar ataxia Premature ovarian insufficiency Lactic acidosis Muscle fiber atrophy Generalized amyotrophy EMG abnormality Progressive neurologic deterioration Mood changes Sleep disturbance Abdominal pain Mitochondrial myopathy Progressive external ophthalmoplegia Abnormality of the thyroid gland Bilateral ptosis Aciduria External ophthalmoplegia Exercise intolerance Progressive muscle weakness Status epilepticus Gliosis Personality changes Ophthalmoplegia Hypothyroidism Cerebral cortical atrophy Ptosis Pain Leukoencephalopathy Ventricular fibrillation Ventricular hypertrophy Blindness Paresthesia Cerebellar atrophy Progressive visual loss Mutism Chorea Dyskinesia Congestive heart failure Lower limb muscle weakness Anemia Abnormality of the cerebral white matter Elevated hepatic transaminase Rigidity Hepatosplenomegaly Splenomegaly Generalized-onset seizure Neuronal loss in central nervous system Pigmentary retinopathy Involuntary movements Ventricular arrhythmia Hair-pulling Abnormal facial shape Pneumonia Abnormal pyramidal sign Protruding tongue Self-mutilation Muscular hypotonia of the trunk Proteinuria Acute hepatic failure Respiratory failure Renal insufficiency Intellectual disability, mild Respiratory distress Self-mutilation of tongue and lips due to involuntary movements Scoliosis Abnormality of urine homeostasis Disinhibition Dysgraphia Square-wave jerks Subcortical dementia Progressive choreoathetosis Abnormal urinary color Abetalipoproteinemia Self-injurious behavior Abnormal erythrocyte morphology Distal upper limb muscle weakness Progressive distal muscular atrophy Phonic tics Difficulty in tongue movements Obsessive-compulsive behavior Abnormality of vision Dorsocervical fat pad Pes cavus Recurrent respiratory infections Ventriculomegaly Feeding difficulties Primary hypercortisolism Macronodular adrenal hyperplasia Moon facies Abnormality of the nervous system Metrorrhagia Onychomycosis Abnormal cerebellum morphology Decreased circulating ACTH level Abdominal obesity Neoplasm of the endocrine system Pituitary adenoma Weight loss Aggressive behavior Drooling Abnormality of eye movement Glaucoma Vasculitis Retinal degeneration Abnormal bleeding Stroke Lymphadenopathy Abnormality of the foot Abnormality of the eye Nausea and vomiting Malabsorption Generalized tonic-clonic seizures Neurological speech impairment Attention deficit hyperactivity disorder Pallor Developmental regression Ascites Nephrotic syndrome Joint hyperflexibility Adrenal insufficiency Hypoparathyroidism Exocrine pancreatic insufficiency Primary adrenal insufficiency Renal tubular acidosis Basal ganglia calcification Bundle branch block Hemiplegia/hemiparesis Heart block Abnormality of mitochondrial metabolism Nasal speech Incoordination Atrioventricular block Reduced tendon reflexes Abnormality of retinal pigmentation Increased CSF protein Hyperaldosteronism Cerebral calcification First degree atrioventricular block Progressive intervertebral space narrowing Second degree atrioventricular block Third degree atrioventricular block Adrenocorticotropin deficient adrenal insufficiency Folate deficiency Renal Fanconi syndrome Sideroblastic anemia Hypomagnesemia Titubation Abnormality of the mitochondrion Anterior hypopituitarism Stroke-like episode Gait imbalance Severe lactic acidosis Cardiomegaly Growth hormone deficiency Hepatic failure Hypergonadotropic hypogonadism Focal segmental glomerulosclerosis Glomerulonephritis Glomerulosclerosis Failure to thrive in infancy Hyperextensible skin Oculomotor apraxia Pancytopenia Myoglobinuria Apraxia Increased circulating cortisol level Bilateral sensorineural hearing impairment Specific learning disability Postural instability Nephropathy Glomerulopathy Tubular atrophy Syncope Severe short stature Vertigo Muscular dystrophy Nyctalopia Retinopathy Paralysis Reduced visual acuity Cerebellar hypoplasia Scanning speech Delayed skeletal maturation Crescentic glomerulonephritis Rapid neurologic deterioration Exercise-induced myoglobinuria Recurrent myoglobinuria Glutaric aciduria Steroid-resistant nephrotic syndrome Adrenal hyperplasia Acne Subarachnoid hemorrhage Tetraplegia Limb ataxia Choreoathetosis Spastic tetraplegia Febrile seizures Hypertonia Urinary incontinence Coma Spastic paraparesis Neutropenia Babinski sign Unsteady gait Paraplegia Spastic paraplegia Hyperhidrosis Paraparesis Spastic tetraparesis Gastroesophageal reflux Progressive forgetfulness Respiratory insufficiency Presenile cataracts Fingerprint intracellular accumulation of autofluorescent lipopigment storage material Cerebral degeneration Increased extraneuronal autofluorescent lipopigment Progressive inability to walk Hyperchloremic acidosis Athetosis Testicular dysgenesis Nonprogressive cerebellar ataxia 3-Methylglutaconic aciduria Abnormality of the basal ganglia Skeletal myopathy Short attention span Hypoglycemia Dyspnea Concentric hypertrophic cardiomyopathy Sensorimotor neuropathy Atrial fibrillation Hallucinations Supraventricular tachycardia Motor axonal neuropathy Left bundle branch block Ventricular extrasystoles Cardiac arrest Hyporeflexia of lower limbs Restlessness Impaired pain sensation Impaired vibration sensation in the lower limbs Rhabdomyolysis Bowel incontinence Sleep apnea Excessive salivation Increased muscle fatiguability Gait ataxia Abnormal facial expression Hyperactivity Recurrent infections Delayed speech and language development Hemolytic anemia Abnormality of the astrocytes Hyporeflexia of upper limbs Blood group antigen abnormality Personality disorder Recurrent singultus Abnormal corpus striatum morphology Abnormal lactate dehydrogenase activity Abnormal social behavior Impaired temperature sensation Generalized limb muscle atrophy Curvilinear intracellular accumulation of autofluorescent lipopigment storage material Increased neuronal autofluorescent lipopigment Aseptic necrosis Osteopenia Recurrent fractures Nevus Hirsutism Bruising susceptibility Infertility Lethargy Osteoporosis Hypotension Obesity Headache Immunodeficiency Kyphosis Edema Hypertension Round face Thin skin Subsarcolemmal accumulations of abnormally shaped mitochondria Agitation Generalized hyperpigmentation Striae distensae Telangiectasia of the skin Orthostatic hypotension Truncal obesity Menorrhagia Emotional lability Nephrolithiasis Lipodystrophy Hypokalemia Recurrent skin infections Venous thrombosis Generalized hirsutism Increased body weight Neoplasm Multiple mitochondrial DNA deletions Intracellular accumulation of autofluorescent lipopigment storage material Tapetoretinal degeneration Undetectable electroretinogram Bradykinesia Amenorrhea Increased serum lactate Migraine Brain atrophy Vegetative state Aspiration pneumonia Psychomotor deterioration Oromandibular dystonia Vacuolated lymphocytes Myalgia Proximal muscle weakness Autophagic vacuoles Pendular nystagmus Diplopia Cytochrome C oxidase-negative muscle fibers Apathy Sensory ataxia Limb-girdle muscle weakness Resting tremor Clumsiness Coronary artery atherosclerosis Aspiration Macular degeneration Bradycardia Dysphonia EMG: myopathic abnormalities Mildly elevated creatine phosphokinase Progressive hearing impairment Retinal atrophy Progressive encephalopathy Low CSF 5-methyltetrahydrofolate



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