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:
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
Too many results?
We can help you with your rare disease diagnosis.
Learn more
Other less relevant matches:
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
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
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
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
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
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
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
|
Accelerate your rare disease diagnosis with us
Learn more
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
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like
Arthritis and Spinal muscular atrophy, related diseases and genetic alterations
Rod-cone dystrophy and Joint hypermobility, related diseases and genetic alterations
Hepatomegaly and Micropenis, related diseases and genetic alterations
Flexion contracture and Macrocephaly, related diseases and genetic alterations
Need help with a diagnosis?
Learn more about how to achieve it with Mendelian
Learn more