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