Dysarthria, and Atherosclerosis

Diseases related with Dysarthria and Atherosclerosis

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


Top matches:

Low match NIEMANN-PICK DISEASE, TYPE C2; NPC2


Niemann-Pick type C (NPC) disease is an autosomal recessive lipid storage disorder characterized by progressive neurodegeneration. Approximately 95% of cases are caused by mutations in the NPC1 gene (OMIM ), referred to as type C1 (OMIM ); 5% are caused by mutations in the NPC2 gene (OMIM ), referred to as type C2. The clinical manifestations of types C1 (OMIM ) and C2 are similar because the respective genes are both involved in egress of lipids, particularly cholesterol, from late endosomes or lysosomes (summary by Vance, 2006).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: OMIM MESH MENDELIAN

More info about NIEMANN-PICK DISEASE, TYPE C2; NPC2

Low match GM1 GANGLIOSIDOSIS TYPE 3


GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis (see this term) characterized by onset generally during childhood or adolescence and by cerebellar dysfunction.

GM1 GANGLIOSIDOSIS TYPE 3 Is also known as gangliosidosis, generalized gm1, type iii|gangliosidosis, generalized gm1, type 3|adult-onset gm1 gangliosidosis|gangliosidosis, generalized gm1, adult type|gangliosidosis, generalized gm1, chronic type

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about GM1 GANGLIOSIDOSIS TYPE 3

Low match HYPOMYELINATING LEUKODYSTROPHY-ATAXIA-HYPODONTIA-HYPOMYELINATION SYNDROME


Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome is a rare, genetic, neurological disorder characterized by early-onset, progressive ataxia, white matter hypomyelination and cerebellar atrophy on brain MRI imaging, and various dental abnormalities, including hypodontia, delayed primary tooth eruption, complete retention of the primary maxillary central incisors and abnormal shape of the permanent maxillary incisors.

HYPOMYELINATING LEUKODYSTROPHY-ATAXIA-HYPODONTIA-HYPOMYELINATION SYNDROME Is also known as 4h syndrome|leukodystrophy, hypomyelinating, with hypodontia and hypogonadotropic hypogonadism|leukoencephalopathy, hypomyelinating, with ataxia and delayed dentition|ataxia, delayed dentition, and hypomyelination|ataxia-delayed dentition-hypomyelination

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOMYELINATING LEUKODYSTROPHY-ATAXIA-HYPODONTIA-HYPOMYELINATION SYNDROME

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Other less relevant matches:

Low match NIEMANN-PICK DISEASE, TYPE C1; NPC1


Niemann-Pick type C (NPC) disease is an autosomal recessive lipid storage disorder characterized by progressive neurodegeneration. Approximately 95% of cases are caused by mutations in the NPC1 gene, referred to as type C1; 5% are caused by mutations in the NPC2 gene (OMIM ), referred to as type C2 (OMIM ). The clinical manifestations of types C1 and C2 are similar because the respective genes are both involved in egress of lipids, particularly cholesterol, from late endosomes or lysosomes (summary by Vance, 2006).Historically, Crocker (1961) delineated 4 types of Niemann-Pick disease: the classic infantile form (type A; {257200}), the visceral form (type B; {607616}), the subacute or juvenile form (type C), and the Nova Scotian variant (type D). Types C1 and D are indistinguishable except for the occurrence of type D in patients of Nova Scotian Acadian ancestry. Since then, types E and F have also been described (see {607616}), and phenotypic variation within each group has also been described.

NIEMANN-PICK DISEASE, TYPE C1; NPC1 Is also known as niemann-pick disease, type c|niemann-pick disease with cholesterol esterification block|neurovisceral storage disease with vertical supranuclear ophthalmoplegia|niemann-pick disease, subacute juvenile form|npc|niemann-pick disease without sphingomyelinase

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about NIEMANN-PICK DISEASE, TYPE C1; NPC1

Low match XERODERMA PIGMENTOSUM-COCKAYNE SYNDROME COMPLEX


Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term).

XERODERMA PIGMENTOSUM-COCKAYNE SYNDROME COMPLEX Is also known as xp/cs complex

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET MENDELIAN

More info about XERODERMA PIGMENTOSUM-COCKAYNE SYNDROME COMPLEX

Low match CARASIL


CARASIL is a hereditary cerebral small vessel disease characterized by early-onset gait disturbances, premature scalp alopecia, ischemic stroke, acute mid to lower back pain and progressive cognitive disturbances leading to severe dementia.

CARASIL Is also known as cerebrovascular disease with thin skin, alopecia, and disc disease|subcortical vascular encephalopathy, progressive|maeda syndrome|cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy

Related symptoms:

  • Ataxia
  • Nystagmus
  • Pain
  • Spasticity
  • Cognitive impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CARASIL

Low 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

Low match CADASIL


CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary cerebrovascular disorder characterized by mid-adult onset of recurrent subcortical ischemic stroke and cognitive impairment progressing to dementia in addition to migraines with aura and mood disturbances seen in about a third of patients.

CADASIL Is also known as dementia, hereditary multi-infarct type|cadasil|cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy|casil|hereditary multi-infarct dementia

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about CADASIL

Low match CEREBROTENDINOUS XANTHOMATOSIS


Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction.

CEREBROTENDINOUS XANTHOMATOSIS Is also known as cerebral cholesterinosis|sterol 27-hydroxylase deficiency|ctx

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Muscle weakness


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CEREBROTENDINOUS XANTHOMATOSIS

Low match COCKAYNE SYNDROME TYPE 1


Cockayne syndrome is characterized by abnormal and slow growth and development that becomes evident within the first few years after birth. 'Cachectic dwarfism' describes the outward appearance of afflicted individuals. Other features include cutaneous photosensitivity, thin, dry hair, a progeroid appearance, progressive pigmentary retinopathy, sensorineural hearing loss, dental caries, and a characteristic stance in the ambulatory patient. Patients often show disproportionately long limbs with large hands and feet, and flexion contractures of joints are usual skeletal features. Knee contractures result in a 'horse-riding stance.' There is delayed neural development and severe progressive neurologic degeneration resulting in mental retardation. The mean age at death in reported cases is 12.5 years, although a few affected individuals have lived into their late teens or twenties. Remarkably, in striking contrast with xeroderma pigmentosum, patients with CS have no significant increase in skin cancer or infection (Nance and Berry, 1992).Lowry (1982) noted that there is an early-onset form of Cockayne syndrome in which patients may show abnormalities at birth and have a shorter survival. Lowry (1982) thus suggested that CS could be divided clinically into the more common type I, with classic CS symptoms that manifest within the first few years or life, and the less common type II, with more severe symptoms that manifest prenatally. Mallery et al. (1998) found no correlation between genotype and phenotype among 16 patients with CS of varying severities, and concluded that clinical differences were based on other genetic backgrounds or the intrauterine environment. Genetic Heterogeneity of Cockayne SyndromeCockayne syndrome is a genetically heterogeneous disorder, and certain types show some overlap with certain forms of xeroderma pigmentosum (XP), another disorder caused by defective DNA repair. See also Cockayne syndrome B (OMIM ), caused by mutation in the ERCC6 gene (OMIM ) on chromosome 10q11; XPG/CS (see {278780}), caused by mutation in the ERCC5 gene (OMIM ) on chromosome 13q33; XPB/CS (see {610651}), caused by mutation in the ERCC3 gene (OMIM ) on chromosome 2q21; and XPF/CS (see {278760}), caused by mutation in the ERCC4 gene (OMIM ) on chromosome 16p13.Rapin et al. (2000) reviewed the clinical, pathologic, and molecular features of Cockayne syndrome, xeroderma pigmentosum, and the XP-CS complex.

COCKAYNE SYNDROME TYPE 1 Is also known as cockayne syndrome type i

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about COCKAYNE SYNDROME TYPE 1

Top 5 symptoms//phenotypes associated to Dysarthria and Atherosclerosis

Symptoms // Phenotype % cases
Ataxia Very Common - Between 80% and 100% cases
Spasticity Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Cognitive impairment Common - Between 50% and 80% cases
Tremor Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Dysarthria and Atherosclerosis. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Dementia

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability

Common Symptoms - More than 50% cases


Mental deterioration

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay

Common Symptoms - More than 50% cases


Dysphagia

Uncommon Symptoms - Between 30% and 50% cases


Gait disturbance Short stature Hyperreflexia Dystonia Nystagmus Hearing impairment Neurodegeneration Muscle weakness Abnormality of extrapyramidal motor function Intention tremor Abnormal pyramidal sign Peripheral demyelination Peripheral neuropathy Sensorineural hearing impairment Rigidity Babinski sign Delayed speech and language development Cerebral cortical atrophy Developmental regression Optic atrophy Myoclonus Foam cells Depressivity Cataract Urinary incontinence Dysmetria Tetraparesis Behavioral abnormality Cerebral atrophy Parkinsonism Abnormality of the cerebral white matter Ophthalmoplegia Memory impairment Pain Hypertension Hepatomegaly Respiratory insufficiency Splenomegaly Diplopia Bradykinesia Psychosis Progressive neurologic deterioration Athetosis Loss of speech Hypogonadism Apathy Pseudobulbar paralysis Visceromegaly

Rare Symptoms - Less than 30% cases


Sparse hair Progressive cerebellar ataxia Skin rash Abnormal cerebellum morphology Lower limb muscle weakness Neurological speech impairment Jaundice Osteoporosis Sensory neuropathy Dysphonia Generalized tonic-clonic seizures Stroke-like episode Tetraplegia Encephalopathy Leukoencephalopathy Leukodystrophy Abnormality of visual evoked potentials Elevated serum creatine phosphokinase Arrhythmia Cutaneous photosensitivity Confusion Diffuse leukoencephalopathy Visual impairment Intrauterine growth retardation Dry skin Hemiparesis Retinopathy Hydrocephalus Microcephaly Stroke Myopathy Migraine Arteriosclerosis Fetal ascites Chorea Pallor Abnormality of the eye Kyphosis Intellectual disability, mild Hypertonia Cerebellar atrophy Low cholesterol esterification rates Abnormal cholesterol homeostasis Foam cells in visceral organs and CNS Sea-blue histiocytosis Bone-marrow foam cells Spastic tetraparesis Cataplexy Vertical supranuclear gaze palsy Perseveration Supranuclear gaze palsy Neurofibrillary tangles Prolonged neonatal jaundice EEG abnormality Aphasia Paralysis Hepatosplenomegaly Muscular hypotonia Generalized hypotonia Opacification of the corneal stroma Skeletal muscle atrophy Slurred speech Truncal ataxia Myocardial infarction Brain atrophy Cerebral calcification Abnormal electroretinogram Aggressive behavior Amyloidosis Joint stiffness Recurrent pneumonia Shock Spastic paraplegia Cranial nerve paralysis Bulbar palsy Visual loss Hemiplegia Diarrhea Headache Vomiting Fever Scotoma Congenital cataract Subsarcolemmal accumulations of abnormally shaped mitochondria Personality changes Malabsorption Paraplegia Impaired pain sensation Subdural hemorrhage Mania Coma Abnormality of nervous system morphology Attention deficit hyperactivity disorder Subcutaneous hemorrhage Abnormality of eye movement Vertigo Nausea Amaurosis fugax Inability to walk Migraine with aura Cerebral ischemia Facial palsy Scintillating scotoma Varicose veins Focal sensory seizure Transient ischemic attack Retinal arteriolar tortuosity Abnormality of the skin Subcortical dementia Hypoglycemia Optic neuropathy Abulia Recurrent subcortical infarcts Nonarteritic anterior ischemic optic neuropathy Cerebral hemorrhage Tuberous xanthoma Hepatitis Decreased nerve conduction velocity Atypical scarring of skin Severe postnatal growth retardation Basal ganglia calcification Thickened calvaria Reduced subcutaneous adipose tissue Anhidrosis Large hands Neoplasm of the skin Hypoplastic iliac wing Knee flexion contracture Anorexia Pigmentary retinopathy Dental malocclusion Limitation of joint mobility Polyneuropathy Abnormality of skin pigmentation Carious teeth Progeroid facial appearance Hypoplastic pelvis Abnormality of the pinna Normal pressure hydrocephalus Patchy demyelination of subcortical white matter Ivory epiphyses of the phalanges of the hand Peripheral dysmyelination Square pelvis bone Slender nose Increased cellular sensitivity to UV light Severe photosensitivity Loss of facial adipose tissue Dry hair Decreased lacrimation Chorioretinitis Retinal pigment epithelial mottling Delayed eruption of primary teeth Abnormal auditory evoked potentials CNS demyelination Hypoplasia of teeth Menstrual irregularities Hypermetropia Proteinuria Optic disc pallor Abnormality of the periventricular white matter Myelopathy Decreased HDL cholesterol concentration Precocious atherosclerosis Xanthomatosis Angina pectoris Frontotemporal dementia Delusions Agitation Giant cell hepatitis Cholelithiasis Abnormality of vision Hypercholesterolemia Joint dislocation Hallucinations Nephrolithiasis Chronic diarrhea Cholestasis Xanthelasma Juvenile cataract Mandibular prognathia Failure to thrive Micropenis Severe short stature Renal insufficiency Intellectual disability, severe Flexion contracture Cryptorchidism Strabismus Neoplasm Tendon xanthomatosis Abnormality of central somatosensory evoked potentials Cytochrome C oxidase-negative muscle fibers EEG with generalized slow activity Abnormality of the dentate nucleus Palatal myoclonus EMG: axonal abnormality Frontal lobe dementia Abnormality of cholesterol metabolism Multiple mitochondrial DNA deletions Knee pain Sensory ataxia Pneumonia Drooling Oligodontia CNS hypomyelination Reduced number of teeth Dysdiadochokinesis Focal impaired awareness seizure Postural tremor Natal tooth Motor deterioration Hypometric saccades Abnormal upper motor neuron morphology Growth delay Anemia Thrombocytopenia Neonatal hypotonia High myopia Oligohydramnios Trismus Schizophrenia Clumsiness Intellectual disability, profound Spastic tetraplegia Mitral valve prolapse Neuronal loss in central nervous system Abnormality of the nervous system Ascites Sleep disturbance Bruising susceptibility Cirrhosis Retinal degeneration Abnormality of movement Hypogonadotrophic hypogonadism Focal-onset seizure Spastic dysarthria Scoliosis Abnormality of blood and blood-forming tissues Progressive spasticity Generalized amyotrophy Abnormality of the face Platyspondyly Pes cavus Motor aphasia Generalized dystonia Interstitial pulmonary abnormality Oral-pharyngeal dysphagia Stereotypy Abnormal lung morphology Dyskinesia Respiratory failure Hyperactive deep tendon reflexes Diffuse cerebral atrophy Hypodontia Myopia Delayed eruption of teeth Delayed puberty Gait ataxia Abnormality of the dentition Hypoplasia of the corpus callosum Ventriculomegaly Motor delay Flared iliac wings Decreased beta-galactosidase activity Anterior beaking of lumbar vertebrae Hypoplastic acetabulae Stuttering Angiokeratoma Facial grimacing Head tremor Aplasia/Hypoplasia of the abdominal wall musculature Limb-girdle muscle weakness Increased serum lactate Bradycardia Progressive muscle weakness Left ventricular hypertrophy Status epilepticus Ventricular hypertrophy Amenorrhea Gliosis External ophthalmoplegia Generalized muscle weakness Muscle cramps Paresthesia Limb muscle weakness Severe global developmental delay Myalgia Exercise intolerance Progressive hearing impairment Hypothyroidism Coronary artery atherosclerosis Mitochondrial myopathy Progressive external ophthalmoplegia Bipolar affective disorder Insomnia Resting tremor Abnormality of the thyroid gland Sensory axonal neuropathy Ragged-red muscle fibers Ventricular fibrillation Ophthalmoparesis Premature ovarian insufficiency Bilateral ptosis Mutism EMG: myopathic abnormalities Proximal muscle weakness Diabetes mellitus Supranuclear ophthalmoplegia Basal cell carcinoma Numerous pigmented freckles Abnormality of amino acid metabolism Squamous cell carcinoma of the skin Demyelinating peripheral neuropathy Poikiloderma Prematurely aged appearance Urticaria Unsteady gait Dermal atrophy Cachexia Melanoma Fatal liver failure in infancy Congenital thrombocytopenia Rapid neurologic deterioration Alopecia Spastic gait Hyporeflexia Pseudobulbar signs Areflexia Cardiomyopathy Fatigue Ptosis Arteriosclerosis of small cerebral arteries Diffuse demyelination of the cerebral white matter Diffuse white matter abnormalities Back pain Low back pain Spastic ataxia Progressive encephalopathy Gaze-evoked nystagmus Urinary urgency Emotional lability Thymic hormone decreased



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