Cognitive impairment, and Dilated cardiomyopathy

Diseases related with Cognitive impairment and Dilated cardiomyopathy

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


Top matches:

Medium match CARDIOMYOPATHY, DILATED, 1U; CMD1U


Related symptoms:

  • Cardiomyopathy
  • Congestive heart failure
  • Dementia
  • Dilated cardiomyopathy
  • Syncope


SOURCES: OMIM MESH MENDELIAN

More info about CARDIOMYOPATHY, DILATED, 1U; CMD1U

Medium match CARDIOMYOPATHY, DILATED, 1V; CMD1V


Related symptoms:

  • Cardiomyopathy
  • Congestive heart failure
  • Dementia
  • Dilated cardiomyopathy
  • Syncope


SOURCES: OMIM MESH MENDELIAN

More info about CARDIOMYOPATHY, DILATED, 1V; CMD1V

Medium match BARDET-BIEDL SYNDROME 2; BBS2


BBS2 is an autosomal recessive ciliopathy characterized by retinal degeneration, polydactyly, renal disease, hypogonadism, obesity, dysmorphic features, and variable degrees of cognitive impairment (Innes et al., 2010). Mutation in the BBS2 gene is the third most frequent cause of BBS, accounting for approximately 8% of cases (Zaghloul and Katsanis, 2009).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Cognitive impairment
  • Cardiomyopathy
  • Atrial septal defect


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 2; BBS2

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Other less relevant matches:

Medium match MUSCULAR DYSTROPHY, BECKER TYPE; BMD


The muscular dystrophy that carries the Becker eponym is similar to Duchenne muscular dystrophy in the distribution of muscle wasting and weakness, which is mainly proximal, but the course is more benign, with age of onset around 12 years; some patients have no symptoms until much later in life. Loss of ambulation also varies from adolescence onward, with death usually in the fourth or fifth decade. In some cases, as in Duchenne muscular dystrophy, a degree of mental impairment is present (Emery, 2002).As in DMD, about 5 to 10% of female carriers of this X-linked disorder show muscle weakness, and frequently enlarged calves--so-called manifesting heterozygotes. Such weakness is often asymmetric; it can develop in childhood or not become evident until adult life, and can be slowly progressive or remain static. Because weakness is essentially proximal, differentiation from limb-girdle muscular dystrophy is essential for genetic counseling. In both DMD and BMD, female carriers may develop dilated cardiomyopathy in the absence of apparent weakness (Grain et al., 2001).

MUSCULAR DYSTROPHY, BECKER TYPE; BMD Is also known as muscular dystrophy, pseudohypertrophic progressive, becker type|becker muscular dystrophy

Related symptoms:

  • Muscle weakness
  • Cognitive impairment
  • Skeletal muscle atrophy
  • Cardiomyopathy
  • Myopathy


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY, BECKER TYPE; BMD

Medium match MITOCHONDRIAL DNA-RELATED CARDIOMYOPATHY AND HEARING LOSS


Maternally inherited cardiomyopathy and hearing loss is a mitochondrial disease described in two unrelated families to date that has a heterogeneous clinical presentation characterized by the association of progressive sensorineural hearing loss with hypertrophic cardiomyopathy and, in the majority of cases, encephalomyopathy symptoms such as ataxia, slurred speech, progressive external opthalmoparesis (PEO), muscle weakness, myalgia, and exercise intolerance.

MITOCHONDRIAL DNA-RELATED CARDIOMYOPATHY AND HEARING LOSS Is also known as mtdna-related cardiomyopathy and hearing loss|trna-lys-related cardiomyopathy-hearing loss syndrome|maternally-inherited cardiomyopathy and deafness

Related symptoms:

  • Ataxia
  • Sensorineural hearing impairment
  • Muscle weakness
  • Hypertension
  • Peripheral neuropathy


SOURCES: ORPHANET MENDELIAN

More info about MITOCHONDRIAL DNA-RELATED CARDIOMYOPATHY AND HEARING LOSS

Medium match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2M


Autosomal recessive limb-girdle muscular dystrophy type 2M (LGMD2M) is a form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2M Is also known as muscular dystrophy, limb-girdle, autosomal recessive 13|lgmdr13|muscular dystrophy, limb-girdle, type 2m|lgmd2m

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Muscle weakness
  • Muscular hypotonia
  • Flexion contracture


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2M

Medium match MCLEOD SYNDROME; MCLDS


Hematologically, McLeod syndrome is characterized by the absence of red blood cell Kx antigen, weak expression of Kell red blood cell antigens, acanthocytosis, and compensated hemolysis. Most carriers of this McLeod blood group phenotype have acanthocytosis and elevated serum creatine kinase levels and are prone to develop a severe neurologic disorder resembling Huntington disease (OMIM ). Onset of neurologic symptoms ranges between 25 and 60 years (mean onset 30-40 years), and penetrance appears to be high. Additional symptoms include generalized seizures, neuromuscular symptoms leading to weakness and atrophy, and cardiomyopathy mainly manifesting with atrial fibrillation, malignant arrhythmias, and dilated cardiomyopathy (summary by Jung et al., 2007).The cooccurrence of McLeod syndrome and chronic granulomatous disease (CGD ) results from a contiguous gene deletion (Francke et al., 1985).

MCLEOD SYNDROME; MCLDS Is also known as mcleod phenotype|neuroacanthocytosis, mcleod type

Related symptoms:

  • Seizures
  • Muscle weakness
  • Cognitive impairment
  • Anemia
  • Peripheral neuropathy


SOURCES: MESH OMIM MENDELIAN

More info about MCLEOD SYNDROME; MCLDS

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 FATAL MITOCHONDRIAL DISEASE DUE TO COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 3


Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy.

FATAL MITOCHONDRIAL DISEASE DUE TO COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 3 Is also known as fatal mitochondrial disease due to coxpd3|encephalomyopathy, respiratory failure, and lactic acidosis|concentric cardiomyopathy, hypotonia, and lactic acidosis

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Growth delay


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FATAL MITOCHONDRIAL DISEASE DUE TO COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 3

Medium match GLYCOGEN STORAGE DISEASE DUE TO LAMP-2 DEFICIENCY


Glycogen storage disease due to LAMP-2 (Lysosomal-Associated Membrane Protein 2) deficiency is a lysosomal glycogen storage disease characterised by severe cardiomyopathy and variable degrees of muscle weakness, frequently associated with intellectual deficit.

GLYCOGEN STORAGE DISEASE DUE TO LAMP-2 DEFICIENCY Is also known as vacuolar cardiomyopathy and myopathy, x-linked|antopol disease|gsd due to lamp-2 deficiency|lysosomal glycogen storage disease without acid maltase deficiency, formerly|glycogenosis due to lamp-2 deficiency|gsd2b, formerly|gsd iib, formerly|glycogen stora

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Muscle weakness
  • Pain
  • Cognitive impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO LAMP-2 DEFICIENCY

Top 5 symptoms//phenotypes associated to Cognitive impairment and Dilated cardiomyopathy

Symptoms // Phenotype % cases
Cardiomyopathy Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Elevated serum creatine phosphokinase Uncommon - Between 30% and 50% cases
Skeletal muscle atrophy Uncommon - Between 30% and 50% cases
Congestive heart failure Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cognitive impairment and Dilated cardiomyopathy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Rhabdomyolysis Myopathy Arrhythmia Global developmental delay Hepatomegaly Myalgia Muscular dystrophy Peripheral neuropathy Exercise intolerance Hypertrophic cardiomyopathy

Rare Symptoms - Less than 30% cases


Mental deterioration Fatigue Encephalopathy Gait disturbance Hypertension Generalized hypotonia Chest pain Seizures Atrial fibrillation Cardiomegaly Visual impairment Respiratory insufficiency Depressivity Dystonia Wolff-Parkinson-White syndrome Increased serum lactate Generalized amyotrophy Proximal muscle weakness Pes cavus Muscular hypotonia Growth delay EMG abnormality Ataxia Ragged-red muscle fibers Intellectual disability Myocardial fibrosis Dementia Syncope Limb-girdle muscular dystrophy Abnormal EKG Cardiac arrest Hyporeflexia Behavioral abnormality Myocardial necrosis Feeding difficulties in infancy Peripheral axonal neuropathy Lactic acidosis Metabolic acidosis Decreased fetal movement Neurodevelopmental delay Sensorimotor neuropathy Severe muscular hypotonia Left ventricular systolic dysfunction Patent foramen ovale Apathy Optic neuropathy Severe lactic acidosis Decreased activity of mitochondrial complex I Concentric hypertrophic cardiomyopathy Ventricular preexcitation Respiratory failure Neonatal hypotonia Intrauterine growth retardation Tics Personality disorder Abetalipoproteinemia Phonic tics Feeding difficulties Increased cerebral lipofuscin Optic atrophy Acidosis Tremor Ventriculomegaly Suicidal ideation Macular hypopigmentation Patent ductus arteriosus Decreased activity of mitochondrial complex IV Decreased activity of mitochondrial complex III Respiratory distress Pain Decreased liver function Motor axonal neuropathy Skeletal myopathy Left ventricular hypertrophy Myofibrillar myopathy Reduced ejection fraction Abnormality of the gastrointestinal tract Cardiorespiratory arrest Hyperlipidemia Ventricular hypertrophy Ventricular tachycardia Respiratory insufficiency due to muscle weakness Hypokinesia Cone/cone-rod dystrophy Abnormal retinal morphology EMG: myopathic abnormalities Ventricular arrhythmia Abnormal electroretinogram Palpitations Psychosis Myopia Abnormality of the liver Back pain Visual loss Impaired myocardial contractility Exercise-induced muscle cramps Hyperactivity Reduced visual acuity Abnormality of the eye Scarring Pigmentary retinopathy Retinal pigment epithelial mottling Muscle flaccidity Autophagic vacuoles Retinopathy Limb muscle weakness Distal amyotrophy Distal sensory impairment Progressive visual loss Acanthocytosis Muscle fiber hypertrophy Aspiration pneumonia Dyspnea Recurrent myoglobinuria Acute rhabdomyolysis Red-brown urine Sensorineural hearing impairment Hyperreflexia Intellectual disability, severe Abnormality of cardiovascular system morphology Febrile seizures Myoglobinuria Slurred speech Ophthalmoparesis Multiple lipomas Progressive sensorineural hearing impairment Progressive external ophthalmoplegia Mild global developmental delay Lower limb pain Calf muscle pseudohypertrophy Mildly elevated creatine phosphokinase Increased adipose tissue Polydactyly Abnormality of the cardiovascular system Myocardial infarction Bundle branch block Atrial septal defect Obesity Rod-cone dystrophy Hypogonadism Retinal degeneration Hypocalcemia Postaxial polydactyly Postaxial hand polydactyly Renal hypoplasia Bicuspid aortic valve External genital hypoplasia Secundum atrial septal defect Unilateral renal hypoplasia Increased serum pyruvate Flexion contracture Abnormality of the musculature Myoclonus Moderately reduced ejection fraction Reduced muscle fiber merosin Anemia Dysarthria Splenomegaly Areflexia Pneumonia Hepatosplenomegaly Hypoglycosylation of alpha-dystroglycan Anxiety Ichthyosis Dyskinesia Chorea Generalized-onset seizure Aspiration Obsessive-compulsive behavior Fatty replacement of skeletal muscle Abnormal glycosylation Motor delay Lumbar hyperlordosis Talipes equinovarus Hydrocephalus Pectus excavatum Hyperlordosis Falls Tachycardia Waddling gait Frequent falls Neck flexor weakness Scapular winging Reduced tendon reflexes Infantile muscular hypotonia Gowers sign Skeletal muscle hypertrophy Calf muscle hypertrophy Spinal rigidity Motor deterioration Glycogen accumulation in muscle fiber lysosomes



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