Cardiomyopathy, and Dementia

Diseases related with Cardiomyopathy and Dementia

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


Top matches:

Low 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

Low 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

Low match GNE MYOPATHY


GNE myopathy is a rare autosomal recessive distal myopathy characterized by early adult-onset, slowly to moderately progressive distal muscle weakness that preferentially affects the tibialis anterior muscle and that usually spares the quadriceps femoris. Muscle biopsy reveals presence of rimmed vacuoles.

GNE MYOPATHY Is also known as nonaka myopathy|ibm2|distal myopathy, nonaka type|hibm2|dmrv|distal myopathy with rimmed vacuoles|hereditary inclusion body myopathy type 2|quadriceps-sparing myopathy|inclusion body myopathy type 2

Related symptoms:

  • Muscle weakness
  • Skeletal muscle atrophy
  • Cardiomyopathy
  • Myopathy
  • Elevated serum creatine phosphokinase


SOURCES: ORPHANET OMIM MENDELIAN

More info about GNE MYOPATHY

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Other less relevant matches:

Low match LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE; LKENP


Progressive leukoencephalopathy with ovarian failure is an autosomal recessive neurodegenerative disorder characterized by loss of motor and cognitive skills, usually with onset in young adulthood. Some patients may have a history of delayed motor development or learning difficulties in early childhood. Neurologic decline is severe, usually resulting in gait difficulties, ataxia, spasticity, and cognitive decline and dementia. Most patients lose speech and become wheelchair-bound or bedridden. Brain MRI shows progressive white matter signal abnormalities in the deep white matter. Affected females develop premature ovarian failure (summary by Dallabona et al., 2014).

Related symptoms:

  • Ataxia
  • Nystagmus
  • Spasticity
  • Motor delay
  • Dysarthria


SOURCES: OMIM MENDELIAN

More info about LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE; LKENP

Low 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

Low match CEROID LIPOFUSCINOSIS, NEURONAL, 10; CLN10


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).For a discussion of genetic heterogeneity of neuronal ceroid lipofuscinosis, see CLN1 (OMIM ).

CEROID LIPOFUSCINOSIS, NEURONAL, 10; CLN10 Is also known as neuronal ceroid lipofuscinosis due to cathepsin d deficiency|ceroid lipofuscinosis, neuronal, cathepsin d-deficient

Related symptoms:

  • Seizures
  • Microcephaly
  • Ataxia
  • Spasticity
  • Low-set ears


SOURCES: ORPHANET OMIM MENDELIAN

More info about CEROID LIPOFUSCINOSIS, NEURONAL, 10; CLN10

Low 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

Low match ADULT POLYGLUCOSAN BODY DISEASE


Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia.

ADULT POLYGLUCOSAN BODY DISEASE Is also known as apbd|polyglucosan body disease, adult form

Related symptoms:

  • Intellectual disability
  • Ataxia
  • Muscle weakness
  • Spasticity
  • Cognitive impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ADULT POLYGLUCOSAN BODY DISEASE

Low 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 MUCOPOLYSACCHARIDOSIS, TYPE IIIA; MPS3A


The Sanfilippo syndrome, or mucopolysaccharidosis III, is an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate (Esposito et al., 2000). The disorder is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life. Type A has been reported (van de Kamp et al., 1981) to be the most severe, with earlier onset and rapid progression of symptoms and shorter survival. Genetic Heterogeneity of Mucopolysaccharidosis Type IIIMPS III includes 4 types, each due to the deficiency of a different enzyme: heparan N-sulfatase (type A); alpha-N-acetylglucosaminidase (type B; {252920}); acetyl CoA:alpha-glucosaminide acetyltransferase (type C; {252930}); and N-acetylglucosamine 6-sulfatase (type D; {252940}).

MUCOPOLYSACCHARIDOSIS, TYPE IIIA; MPS3A Is also known as mps iiia|sulfamidase deficiency|sanfilippo syndrome a|heparan sulfate sulfatase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IIIA; MPS3A

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Dementia

Symptoms // Phenotype % cases
Mental deterioration Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Cerebellar atrophy Uncommon - Between 30% and 50% cases
Behavioral abnormality Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Depressivity Generalized-onset seizure Cerebral atrophy Abnormality of the cerebral white matter Peripheral neuropathy Spasticity Dysarthria Tremor Gait disturbance Cognitive impairment Dystonia Elevated serum creatine phosphokinase Dilated cardiomyopathy Congestive heart failure Muscle weakness Myopathy

Rare Symptoms - Less than 30% cases


Pneumonia Paresthesia Cerebral cortical atrophy Babinski sign Hypertonia Psychomotor deterioration Loss of speech Hepatomegaly Intellectual disability, severe Abnormality of metabolism/homeostasis Anxiety Visual loss Rod-cone dystrophy Rigidity Nevus Neuronal loss in central nervous system Restlessness Splenomegaly Sensory axonal neuropathy Retinal atrophy Memory impairment Increased neuronal autofluorescent lipopigment Parkinsonism Confusion Intracellular accumulation of autofluorescent lipopigment storage material Peripheral axonal neuropathy Gait ataxia Nystagmus Foot dorsiflexor weakness Mildly elevated creatine phosphokinase Lower limb muscle weakness Syncope Dyspnea Visceromegaly Short stature Anemia Asymmetric septal hypertrophy Dysphagia Dysostosis multiplex Arrhythmia Areflexia Hyperhidrosis Abnormality of movement Hepatosplenomegaly Elevated hepatic transaminase Lafora bodies Hemolytic anemia Thickened calvaria Dyskinesia Sensory neuropathy Chorea Coarse hair Atrial fibrillation Cervical spinal cord atrophy Abnormality of central motor function Decreased/absent ankle reflexes Hypomimic face Skin ulcer EMG abnormality Reduced tendon reflexes Amyotrophic lateral sclerosis Impotence Urinary urgency Orthostatic hypotension Abnormality of the periventricular white matter Urinary bladder sphincter dysfunction Slow saccadic eye movements Corpus callosum atrophy Growth abnormality Ovoid thoracolumbar vertebrae Thickened ribs Central nervous system degeneration Neurogenic bladder CNS demyelination Motor polyneuropathy Progressive spastic paraparesis Abnormal upper motor neuron morphology Erectile abnormalities Decreased urine output Heparan sulfate excretion in urine Involuntary movements Recurrent upper respiratory tract infections Left ventricular hypertrophy Abnormal facial expression Delayed speech and language development Hearing impairment Global developmental delay Abnormality of the astrocytes Left bundle branch block Motor axonal neuropathy Supraventricular tachycardia Hyporeflexia of upper limbs Acanthocytosis Tics Orofacial dyskinesia Ventricular extrasystoles Excessive salivation Hyporeflexia of lower limbs Blood group antigen abnormality Increased muscle fatiguability Personality disorder Generalized limb muscle atrophy Impaired temperature sensation Abnormal social behavior Abnormal lactate dehydrogenase activity Caudate atrophy Abnormal corpus striatum morphology Diarrhea Hyperactivity Recurrent singultus Sleep disturbance Hallucinations Sensorimotor neuropathy Cardiac arrest Limb ataxia Sleep apnea Ventricular arrhythmia Obsessive-compulsive behavior Personality changes Split hand Progressive neurologic deterioration Emotional lability Hirsutism Bipolar affective disorder Ventricular fibrillation Bowel incontinence Rhabdomyolysis Impaired vibration sensation in the lower limbs Impaired pain sensation Synophrys Corneal opacity Joint stiffness Coarse facial features Insomnia Progressive muscle weakness Decreased liver function Curvilinear intracellular accumulation of autofluorescent lipopigment storage material Lower limb spasticity Progressive gait ataxia Abnormality of the right hemidiaphragm Motor delay Neurodegeneration Amenorrhea Apraxia Leukoencephalopathy Ragged-red muscle fibers Premature ovarian insufficiency Secondary amenorrhea Congenital nystagmus Periventricular leukomalacia EMG: positive sharp waves Progressive leukoencephalopathy Microcephaly Low-set ears Wide nasal bridge Respiratory insufficiency Respiratory distress Respiratory failure Apnea Gliosis Cyanosis Sloping forehead EMG: myotonic discharges Abnormality of the foot musculature Postnatal microcephaly Increased variability in muscle fiber diameter Abnormality of the cardiovascular system Myocardial infarction Bundle branch block Abnormal EKG Myocardial fibrosis Skeletal muscle atrophy Hypothyroidism Facial palsy Scapular winging EMG: myopathic abnormalities Steppage gait Rimmed vacuoles Muscle fiber inclusion bodies Shoulder girdle muscle weakness Absent Achilles reflex Lower limb amyotrophy Shoulder girdle muscle atrophy Fatty replacement of skeletal muscle Weakness of long finger extensor muscles Limited shoulder movement Quadriceps muscle weakness Tibialis muscle weakness Limited wrist extension Hip flexor weakness Status epilepticus Bradycardia Hemiparesis Difficulty walking Vacuolated lymphocytes Autophagic vacuoles Concentric hypertrophic cardiomyopathy Presenile cataracts Fingerprint intracellular accumulation of autofluorescent lipopigment storage material Cerebral degeneration Increased extraneuronal autofluorescent lipopigment Progressive inability to walk Ventriculomegaly Hypoplasia of the corpus callosum Abnormal pyramidal sign Vegetative state Spastic paraplegia Paraplegia Distal sensory impairment Polyneuropathy Urinary incontinence Limitation of joint mobility Sensory impairment Hypotension Bradykinesia Abnormality of extrapyramidal motor function Tetraparesis Oromandibular dystonia Tapetoretinal degeneration Intellectual disability, progressive Hypertrophic cardiomyopathy Central apnea Premature closure of fontanelles Generalized hypotonia Muscular hypotonia Cataract Visual impairment Optic atrophy Blindness Encephalopathy Myoclonus Glaucoma Retinal degeneration Undetectable electroretinogram Abnormal cerebellum morphology Progressive visual loss Pigmentary retinopathy Psychosis Clumsiness Aspiration Macular degeneration Mutism Progressive encephalopathy Aspiration pneumonia Pendular nystagmus Dense calvaria



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