Cardiomyopathy, and Parkinsonism

Diseases related with Cardiomyopathy and Parkinsonism

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


Top matches:

Medium match ADULT-ONSET DISTAL MYOPATHY DUE TO VCP MUTATION


Adult-onset distal myopathy due to VCP mutation is a rare, genetic distal myopathy disorder characterized by middle age-onset of distal leg muscle weakness, atrophy in the anterior compartment resulting in foot drop, without proximal or scapular skeletal muscle weakness. Rapidly progressive dementia, Paget disease of bone and hand weakness have been reported. Muscle biopsy shows pronounced myopathic changes with rimmed vacuoles.

Related symptoms:


SOURCES: ORPHANET MENDELIAN

More info about ADULT-ONSET DISTAL MYOPATHY DUE TO VCP MUTATION

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

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

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Other less relevant matches:

Medium match CIRRHOSIS-DYSTONIA-POLYCYTHEMIA-HYPERMANGANESEMIA SYNDROME


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

Medium 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

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 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

Medium match AUTOSOMAL DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA


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. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. Both autosomal dominant and autosomal recessive inheritance can occur; autosomal recessive inheritance is usually more severe (Filosto et al., 2003; Luoma et al., 2004).PEO caused by mutation in the POLG gene is associated with more complicated phenotypes than those forms caused by mutation in the ANT1 or C10ORF2 genes (Lamantea et al., 2002). Genetic Heterogeneity of Autosomal Dominant Progressive External Ophthalmoplegia with DNA DeletionsSee also PEOA2 (OMIM ), caused by mutation in the ANT1 gene (SLC25A4 ) on chromosome 4q34; PEOA3 (OMIM ), caused by mutation in the twinkle gene (C10ORF2 ) on chromosome 10q24; PEOA4 (OMIM ), caused by mutation in the POLG2 gene (OMIM ) on chromosome 17q; PEOA5 (OMIM ), caused by mutation in the RRM2B gene (OMIM ) on chromosome 8q23; and PEOA6 (OMIM ), caused by mutation in the DNA2 gene (OMIM ) on chromosome 10q.

AUTOSOMAL DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA Is also known as progressive external ophthalmoplegia, autosomal dominant 1|adpeo

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA

Low match GAUCHER DISEASE TYPE 1


Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia.

GAUCHER DISEASE TYPE 1 Is also known as gaucher disease, juvenile and adult, cerebral|gd iii|gaucher disease, chronic neuronopathic type|non-cerebral juvenile gaucher disease|gaucher disease, subacute neuronopathic type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about GAUCHER DISEASE TYPE 1

Low match 3-METHYLGLUTACONIC ACIDURIA TYPE 3


3-methylglutaconic aciduria type III (MGA III) is an organic aciduria characterised by the association of optic atrophy and choreoathetosis with 3-methylglutaconic aciduria.

3-METHYLGLUTACONIC ACIDURIA TYPE 3 Is also known as optic atrophy, infantile, with chorea and spastic paraplegia|mga3|iraqi-jewish 'optic atrophy plus'|opa3, autosomal recessive|costeff syndrome|autosomal recessive optic atrophy type 3|optic atrophy 3, autosomal recessive|optic atrophy plus syndrome|autoso

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Nystagmus
  • Spasticity


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 3-METHYLGLUTACONIC ACIDURIA TYPE 3

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Parkinsonism

Symptoms // Phenotype % cases
Cognitive impairment Common - Between 50% and 80% cases
Dysarthria Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Seizures 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 Parkinsonism. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Elevated serum creatine phosphokinase

Uncommon Symptoms - Between 30% and 50% cases


Peripheral neuropathy

Common Symptoms - More than 50% cases


Gait disturbance

Uncommon Symptoms - Between 30% and 50% cases


Tremor Short stature Myopathy Muscle weakness Dementia Fatigue Dysphagia Anxiety Cataract Cerebral atrophy Rigidity Visual impairment Arrhythmia Areflexia Memory impairment Elevated hepatic transaminase Sensory neuropathy Hyporeflexia Splenomegaly Bradykinesia Limb muscle weakness Sensory axonal neuropathy Dystonia Hepatomegaly Bipolar affective disorder Abnormality of movement Hypertonia Generalized muscle weakness Hepatosplenomegaly Proximal muscle weakness Dilated cardiomyopathy Emotional lability Gliosis Abnormality of extrapyramidal motor function Spastic paraparesis Hearing impairment Ptosis Skeletal muscle atrophy Hypogonadism Lower limb muscle weakness Sensorimotor neuropathy Left ventricular hypertrophy Ragged-red muscle fibers Neuronal loss in central nervous system Chorea Ophthalmoplegia Paresthesia External ophthalmoplegia Intellectual disability EMG: myopathic abnormalities Pes cavus Nystagmus Optic atrophy Cerebellar atrophy Behavioral abnormality Abnormality of eye movement Hypertrophic cardiomyopathy Mental deterioration Confusion Dysphonia Gait ataxia Exercise intolerance Subsarcolemmal accumulations of abnormally shaped mitochondria Multiple mitochondrial DNA deletions Progressive external ophthalmoplegia Ophthalmoparesis Mitochondrial myopathy Cytochrome C oxidase-negative muscle fibers

Rare Symptoms - Less than 30% cases


Action tremor Abnormal bleeding Progressive neurologic deterioration Failure to thrive Sensorineural hearing impairment Progressive muscle weakness Global developmental delay Hypomimic face Osteoporosis Respiratory insufficiency Abnormality of coagulation Steppage gait Portal hypertension Caudate atrophy Paraparesis Exertional dyspnea Premature ovarian insufficiency Spasticity Neurodegeneration Cirrhosis Abnormality of the liver Ascites Diabetes mellitus Lymphadenopathy Muscle fiber necrosis Facial palsy Peripheral axonal neuropathy Migraine Increased variability in muscle fiber diameter Muscle cramps Generalized amyotrophy Cogwheel rigidity Parkinsonism with favorable response to dopaminergic medication Muscle fiber atrophy Impaired distal vibration sensation Resting tremor Impaired distal proprioception Progressive ophthalmoplegia Recurrent respiratory infections Myalgia Abdominal pain Abnormality of the eye Hypothyroidism Cerebral cortical atrophy Amenorrhea Increased serum lactate Neurological speech impairment Abnormality of the thyroid gland Mildly elevated creatine phosphokinase Involuntary movements Tics Encephalopathy Muscular hypotonia Dyskinesia Atrial fibrillation Pigmentary retinopathy Generalized-onset seizure Psychosis Abnormality of the cerebral white matter Ventricular arrhythmia Insomnia Restlessness Personality changes Ventricular fibrillation Rhabdomyolysis Mutism Orofacial dyskinesia Acanthocytosis Dyspnea Generalized hypotonia Babinski sign Increased muscle fatiguability Congestive heart failure Anemia Myoclonus Pneumonia Thrombocytopenia Absent Achilles reflex Reduced ejection fraction Delayed skeletal maturation Ketosis Shoulder girdle muscle weakness Facial diplegia Gonadal dysgenesis Hyperthyroidism Secondary amenorrhea Kyphosis Myopia Diarrhea Skeletal myopathy Quadriceps muscle weakness Abnormality of the mitochondrion Testicular atrophy Motor delay Gastroparesis Strabismus Growth delay Scoliosis Nocturia Focal white matter lesions Acute rhabdomyolysis Abnormal social behavior Hypergonadotropic hypogonadism Hypokinesia Abnormal erythrocyte morphology Subcortical dementia Progressive choreoathetosis Progressive distal muscular atrophy Hair-pulling Abnormality of urine homeostasis Phonic tics Distal upper limb muscle weakness Difficulty in tongue movements Self-mutilation of tongue and lips due to involuntary movements Abetalipoproteinemia Mood changes Abnormal urinary color Dysgraphia Disinhibition Acute hepatic failure Self-mutilation Protruding tongue Square-wave jerks Edema Difficulty climbing stairs Palpitations Glucose intolerance Abnormality of mitochondrial metabolism Easy fatigability Goiter EEG abnormality Cerebral visual impairment Frequent falls Primary amenorrhea Constipation Coma Lactic acidosis Congenital cataract Lethargy Retinopathy Gastroesophageal reflux Acidosis Blindness Osteopenia Syncope Arthritis Abnormality of the spleen Abnormality of bone marrow cell morphology Spontaneous hematomas Fractures of the long bones Hypersplenism Esodeviation Periorbital edema Generalized osteosclerosis Avascular necrosis of the capital femoral epiphysis Arthralgia of the hip Abnormal myocardium morphology Multiple myeloma Supranuclear gaze palsy Vertebral compression fractures Edema of the lower limbs Increased serum ferritin Hepatocellular carcinoma Flank pain Abnormal platelet function Protuberant abdomen Hyperreflexia Horizontal nystagmus Choreoathetosis Aciduria Neutropenia Paraplegia Spastic paraplegia Reduced visual acuity Horizontal supranuclear gaze palsy Orthopnea Cardiac valve calcification Hematological neoplasm Decreased beta-glucocerebrosidase protein and activity Puberty and gonadal disorders Biliary tract obstruction Vascular calcification Erlenmeyer flask deformity of the femurs Gingival bleeding Aseptic necrosis Proteinuria Cyanosis Decreased body weight Osteoarthritis Epistaxis Pulmonary arterial hypertension Pancytopenia Apraxia Abnormality of the cardiovascular system Abnormality of vision Hepatic fibrosis Generalized myoclonic seizures Abdominal distention Hematuria Bruising susceptibility Abnormality of skin pigmentation Delayed puberty Corneal opacity Anorexia Bone pain Pathologic fracture Clubbing Interstitial pulmonary abnormality Pericardial effusion Petechiae Increased antibody level in blood Osteomyelitis Menorrhagia Leukocytosis Abnormality of the thorax Increased bone mineral density Cholelithiasis Increased susceptibility to fractures Reduced bone mineral density Leukopenia Oculomotor apraxia Osteolysis Meningitis Self-injurious behavior Retinal degeneration Drooling Abnormality of amino acid metabolism Abnormality of divalent inorganic cation homeostasis Abnormal transferrin saturation Copper accumulation in liver Increased total iron binding capacity Decreased serum ferritin Pica Abnormal basal ganglia MRI signal intensity Impaired vibration sensation in the lower limbs Abnormal globus pallidus morphology Vitamin E deficiency Unconjugated hyperbilirubinemia Micronodular cirrhosis Hepatic encephalopathy Hyperglycinemia Abnormal myelination Impaired pain sensation Pain Prolonged prothrombin time Ventricular hypertrophy Cerebral degeneration Increased extraneuronal autofluorescent lipopigment Bradycardia Diplopia Progressive inability to walk Status epilepticus Brain atrophy Bowel incontinence Hyperhidrosis Hemolytic anemia Severe global developmental delay Hallucinations Cardiac arrest Sleep apnea Obsessive-compulsive behavior Poor fine motor coordination Astrocytosis Fingerprint intracellular accumulation of autofluorescent lipopigment storage material Generalized limb muscle atrophy Hepatic steatosis Dysmetria Personality disorder Difficulty walking Jaundice Hypertension Microcephaly Polyneuropathy Abnormality of the astrocytes Hyporeflexia of upper limbs Abnormal facial expression Blood group antigen abnormality Recurrent singultus Abnormal corpus striatum morphology Impaired temperature sensation Hyporeflexia of lower limbs Postural instability Esophageal varix Left bundle branch block Echolalia Generalized dystonia Limb dystonia Polycythemia Axonal loss Ventricular extrasystoles Toe walking Excessive salivation Motor axonal neuropathy Dysdiadochokinesis Supraventricular tachycardia Hyperbilirubinemia Truncal ataxia Decreased liver function Gastrointestinal hemorrhage Progressive hearing impairment Presenile cataracts EMG abnormality Clumsiness Ventriculomegaly Feeding difficulties Homonymous hemianopia Sensory ataxic neuropathy Stooped posture Optic neuritis Abnormality of the cerebrospinal fluid Nevus Abnormal nerve conduction velocity Neuritis Weak voice Positive Romberg sign Aspiration Hand muscle weakness Macular degeneration Progressive visual loss Weight loss Gastrointestinal dysmotility Nausea and vomiting Vasculitis Visual loss Rod-cone dystrophy Sleep disturbance Glaucoma Abnormality of the foot Malabsorption Abnormality of the nervous system Generalized tonic-clonic seizures Abnormal lactate dehydrogenase activity Attention deficit hyperactivity disorder Pallor Developmental regression Abnormal cerebellum morphology Aggressive behavior Hemianopia Stroke-like episode Curvilinear intracellular accumulation of autofluorescent lipopigment storage material Oromandibular dystonia Undetectable electroretinogram Tapetoretinal degeneration Vegetative state Psychomotor deterioration Sensory ataxia Limb-girdle muscle weakness Vacuolated lymphocytes Aspiration pneumonia Autophagic vacuoles Intracellular accumulation of autofluorescent lipopigment storage material Coronary artery atherosclerosis Increased neuronal autofluorescent lipopigment Apathy Concentric hypertrophic cardiomyopathy Bilateral ptosis Pendular nystagmus Distal muscle weakness Shuffling gait Postural tremor Dyschromatopsia Progressive proximal muscle weakness Increased CSF protein Abnormality of the periventricular white matter Abnormal retinal morphology Retinal atrophy Mask-like facies Respiratory insufficiency due to muscle weakness Stroke Scapular winging Muscle stiffness Limb ataxia Mitral regurgitation Mitral valve prolapse Distal sensory impairment Progressive encephalopathy 3-Methylglutaconic aciduria



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