Ataxia, and Hypercholesterolemia

Diseases related with Ataxia and Hypercholesterolemia

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


Top matches:

Medium match ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA; EAOH


Ataxia-oculomotor apraxia syndrome is an early-onset autosomal recessive cerebellar ataxia with peripheral axonal neuropathy, oculomotor apraxia (defined as the limitation of ocular movements on command), and hypoalbuminemia (Moreira et al., 2001). Genetic Heterogeneity of Ataxia-Oculomotor ApraxiaSee also AOA2 (OMIM ), caused by mutation in the SETX gene (OMIM ) on chromosome 9q34; AOA3 (OMIM ), caused by mutation in the PIK3R5 gene (OMIM ) on chromosome 17p; and AOA4 (OMIM ), caused by mutation in the PNKP gene (OMIM ) on chromosome 19q13.

ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA; EAOH Is also known as eoca-ha|aoa|ataxia-oculomotor apraxia syndrome|ataxia-oculomotor apraxia 1|aoa1|cerebellar ataxia, early-onset, with hypoalbuminemia|ataxia-telangiectasia-like syndrome

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA; EAOH

Medium match SPINOCEREBELLAR ATAXIA WITH AXONAL NEUROPATHY TYPE 1


Spinocerebellar ataxia with axonal neuropathy type 1 is a rare, genetic neurological disorder characterized by a late childhood onset of slowly progressive cerebellar ataxia. Initial manifestations include weakness and atrophy of distal limb muscles, areflexia and loss of pain, vibration and touch sensations in upper and lower extremities. Gaze nystagmus, cerebellar dysarthria, peripheral neuropathy, stepagge gait and pes cavus develop as disease progresses. Cerebellar atrophy (especially of the vermis) is present in all affected individuals. Additional reported manifestations include seizures, mild brain atrophy, mild hypercholesterolemia and borderline hypoalbuminemia.

SPINOCEREBELLAR ATAXIA WITH AXONAL NEUROPATHY TYPE 1 Is also known as scan1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Neoplasm


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA WITH AXONAL NEUROPATHY TYPE 1

Medium match PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME; LCCNS


PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME; LCCNS Is also known as lipodystrophy, partial, with congenital cataracts and neurodegeneration

Related symptoms:

  • Ataxia
  • Nystagmus
  • Micrognathia
  • Cataract
  • Babinski sign


SOURCES: OMIM MENDELIAN

More info about PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME; LCCNS

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Other less relevant matches:

Medium match ATAXIA WITH VITAMIN E DEFICIENCY


Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E.

ATAXIA WITH VITAMIN E DEFICIENCY Is also known as familial isolated vitamin e deficiency|aved|ataxia with isolated vitamin e deficiency|isolated vitamin e deficiency|friedreich-like ataxia|ataxia, friedreich-like, with selective vitamin e deficiency

Related symptoms:

  • Scoliosis
  • Ataxia
  • Nystagmus
  • Muscle weakness
  • Spasticity


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ATAXIA WITH VITAMIN E DEFICIENCY

Medium match COG4-CDG


COG4-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia.

COG4-CDG Is also known as carbohydrate deficient glycoprotein syndrome type iij|cdg-iij|cdg syndrome type iij|cdg2j|congenital disorder of glycosylation type iij|congenital disorder of glycosylation type 2j|cdgiij|cdg iij

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COG4-CDG

Medium match SPINOCEREBELLAR ATAXIA WITH AXONAL NEUROPATHY TYPE 2


Spinocerebellar ataxia with axonal neuropathy type 2 (AOA2) is a rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level.

SPINOCEREBELLAR ATAXIA WITH AXONAL NEUROPATHY TYPE 2 Is also known as ataxia-oculomotor apraxia 2|scan 2|scar1|ataxia-ocular apraxia 2|aoa2|ataxia-oculomotor apraxia type 2

Related symptoms:

  • Scoliosis
  • Ataxia
  • Nystagmus
  • Strabismus
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA WITH AXONAL NEUROPATHY TYPE 2

Medium match TAY-SACHS DISEASE; TSD


Tay-Sachs disease is an autosomal recessive, progressive neurodegenerative disorder which, in the classic infantile form, is usually fatal by age 2 or 3 years.

TAY-SACHS DISEASE; TSD Is also known as b variant gm2-gangliosidosis|gm2-gangliosidosis, type i|hexosaminidase a deficiency|hexa deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about TAY-SACHS DISEASE; TSD

Medium 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

Medium match DISTAL MYOPATHY, TATEYAMA TYPE


Distal myopathy, Tateyama type is a rare, genetic, slowly progressive, distal myopathy disorder characterized by muscle atrophy and weakness limited to the small muscles of the hands and feet (in particular, thenar and hypothenar muscle atrophy), increased serum creatine kinase, and severely reduced caveolin-3 expression on muscle biopsy. Some patients may also show calf hypertrophy, pes cavus, and signs of muscle hyperexcitability.

Related symptoms:

  • Muscle weakness
  • Skeletal muscle atrophy
  • Myopathy
  • Elevated serum creatine phosphokinase
  • Pes cavus


SOURCES: OMIM ORPHANET MENDELIAN

More info about DISTAL MYOPATHY, TATEYAMA TYPE

Medium match SMITH-MAGENIS SYNDROME; SMS


SMITH-MAGENIS SYNDROME; SMS Is also known as chromosome 17p11.2 deletion syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about SMITH-MAGENIS SYNDROME; SMS

Top 5 symptoms//phenotypes associated to Ataxia and Hypercholesterolemia

Symptoms // Phenotype % cases
Nystagmus Common - Between 50% and 80% cases
Peripheral neuropathy Common - Between 50% and 80% cases
Pes cavus Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Dysarthria Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Ataxia and Hypercholesterolemia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Sensory neuropathy Tremor Cerebellar atrophy Dystonia Skeletal muscle atrophy Seizures Areflexia Progressive cerebellar ataxia Gait ataxia Intellectual disability Scoliosis Behavioral abnormality Neurodegeneration Gaze-evoked nystagmus Spasticity Lower limb muscle weakness Generalized hypotonia Global developmental delay Cataract Rod-cone dystrophy Slurred speech Abnormal pyramidal sign Developmental regression Hypertonia Hypertriglyceridemia Hypoalbuminemia Sensory axonal neuropathy Oculomotor apraxia Choreoathetosis Distal amyotrophy Peripheral axonal neuropathy Distal sensory impairment Distal muscle weakness Mental deterioration Apraxia Dementia Hyporeflexia Telangiectasia Cognitive impairment Truncal ataxia

Rare Symptoms - Less than 30% cases


Neurological speech impairment Growth delay EEG abnormality Malabsorption Visual loss Aggressive behavior Xanthelasma Mood changes Tendon xanthomatosis Microcephaly Diarrhea Failure to thrive Hallucinations Paralysis Abnormal cerebellum morphology Pallor Myoclonus Depressivity Hearing impairment Abnormality of extrapyramidal motor function Elevated serum creatine phosphokinase Feeding difficulties Dysphagia Strabismus Chronic diarrhea Irritability Cerebral atrophy Falls Hyperreflexia Gait disturbance Hypoplasia of the corpus callosum Chorea Ophthalmoplegia Limb ataxia Fasciculations Spinocerebellar tract degeneration Micrognathia Babinski sign Sensorimotor neuropathy Decreased number of large peripheral myelinated nerve fibers Congenital cataract Cerebellar vermis atrophy Paresthesia Dysmetria Pain Immunodeficiency Recurrent infections Abnormality of cardiovascular system morphology Abnormality of the forearm Inguinal hernia Motor delay Delayed speech and language development Clinodactyly of the 5th finger Low-set ears Head-banging Abnormal heart morphology Cryptorchidism Frequent temper tantrums Cleft palate Sensorineural hearing impairment Constipation Epicanthus Clinodactyly Midline brain calcifications Frontal bossing Short nose Abnormality of the dentition Midface retrusion Edema Anteverted nares Ventriculomegaly Intrauterine growth retardation Malar flattening Abnormality of metabolism/homeostasis Myopia Obesity Morphological abnormality of the middle ear Wide nasal bridge Brachydactyly Abnormal tracheobronchial morphology Hypertelorism Chronic constipation Short stature Atherosclerosis Angina pectoris Frontotemporal dementia Delusions Abnormality of the periventricular white matter Agitation Cholelithiasis Abnormality of vision Joint dislocation Precocious atherosclerosis Nephrolithiasis Cholestasis Progressive neurologic deterioration Myocardial infarction Intention tremor Optic disc pallor Hepatitis Cerebral calcification Xanthomatosis Decreased HDL cholesterol concentration Gastritis Tuberous xanthoma Neck muscle weakness Calf muscle hypertrophy Abnormality of upper lip Palpitations Myalgia Myopathy Abnormality of central somatosensory evoked potentials EEG with generalized slow activity Myelopathy Abnormality of the dentate nucleus Palatal myoclonus EMG: axonal abnormality Frontal lobe dementia Abnormality of cholesterol metabolism Juvenile cataract Giant cell hepatitis Pseudobulbar paralysis Posteriorly rotated ears Hyperactivity Prominent forehead Hypoplasia of dental enamel Lissencephaly Increased body weight Abnormality of the larynx Hoarse voice Abnormal vertebral morphology Sinusitis Stereotypy Heterotopia Abnormality of the outer ear Pachygyria Omphalocele Deep palmar crease Abnormal renal morphology Cavum septum pellucidum Recurrent ear infections Broad-based gait Everted upper lip vermilion Broad face Drooling Decreased fetal movement Abnormality of the thyroid gland Overweight Drowsiness Protruding tongue Impaired pain sensation Broad palm Abnormality of the immune system Progressive spastic paraplegia Open bite Sacral dimple Impulsivity Short attention span Self-injurious behavior Bruxism Poor suck Duodenal atresia Thick upper lip vermilion Abnormality of the urinary system Velopharyngeal insufficiency Abnormality of the cardiovascular system Upslanted palpebral fissure Gastroesophageal reflux Cleft lip Intellectual disability, moderate Anxiety Conductive hearing impairment Deeply set eye Pes planus High forehead Polyhydramnios Hyperlordosis Mandibular prognathia Hypothyroidism Hyperacusis Cerebral cortical atrophy Premature atrial contractions Self-mutilation Pelvic kidney Brachycephaly Abnormality of the kidney Microtia Paraplegia Single transverse palmar crease Otitis media Excessive daytime sleepiness Esotropia Full cheeks Macroglossia Microcornea Delayed eruption of teeth Recurrent aspiration pneumonia Lethargy Sleep disturbance Retinal detachment Small hand Nephropathy Short palm Oral cleft Dry skin Synophrys Parkinsonism Urinary incontinence Abnormality of the cerebral white matter Increased LDL cholesterol concentration Absent speech Splenomegaly Fever Hepatomegaly Abnormal facial shape Vitamin E deficiency Abetalipoproteinemia Fat malabsorption Recurrent respiratory infections Abnormality of visual evoked potentials Steatorrhea Hemiplegia/hemiparesis Dysdiadochokinesis Abnormality of retinal pigmentation Nyctalopia Hypertrophic cardiomyopathy Thrombocytopenia Hepatosplenomegaly Diabetes mellitus Elevated alkaline phosphatase Generalized neonatal hypotonia Intermittent diarrhea Thick hair Diffuse cerebral atrophy Limb hypertonia Abnormality of the coagulation cascade Failure to thrive in infancy Recurrent upper respiratory tract infections Elevated hepatic transaminase Shock Sloping forehead Sepsis Hepatic failure Cirrhosis Respiratory tract infection Muscular hypotonia of the trunk Abnormality of the nervous system Arrhythmia Frontotemporal cerebral atrophy Neoplasm Spastic dysarthria Distal lower limb muscle weakness Impaired vibration sensation in the lower limbs Axonal loss Global brain atrophy Steppage gait Brain atrophy Limb fasciculations Impaired distal proprioception Peripheral axonal degeneration Facial grimacing Hypometric saccades Progressive external ophthalmoplegia Axonal degeneration Impaired vibratory sensation External ophthalmoplegia Pain insensitivity Retinopathy Cardiomyopathy Glucose intolerance Visual impairment Decreased adipose tissue around neck Lack of facial subcutaneous fat Loss of subcutaneous adipose tissue in limbs Absence of subcutaneous fat Orthostatic hypotension Brisk reflexes Lipodystrophy Hypotension Hyperlipidemia Acanthosis nigricans Pancreatitis Clonus Insulin resistance Abnormality of the face Epidermal acanthosis Pigmentary retinopathy Recurrent infection of the gastrointestinal tract Neonatal sepsis Spastic paraplegia Poor head control Muscle fibrillation Amyotrophic lateral sclerosis Oral-pharyngeal dysphagia Personality changes Spinal muscular atrophy Apathy Incoordination Hyperkinesis Proximal amyotrophy Melanoma Progressive hearing impairment EMG abnormality Muscle stiffness Foot dorsiflexor weakness Aspiration Progressive muscle weakness Loss of speech Action tremor Clumsiness GM2-ganglioside accumulation Joint stiffness Abnormality of the eye Jaundice Osteoporosis Intellectual disability, mild Respiratory insufficiency Zebra bodies Internuclear ophthalmoplegia Torsion dystonia Therapeutic abortion Cherry red spot of the macula Abnormal anterior horn cell morphology Psychotic episodes Decerebrate rigidity Paranoia Psychomotor deterioration Exaggerated startle response Involuntary movements Psychosis Complex febrile seizures Peripheral demyelination Progressive gait ataxia Urinary bladder sphincter dysfunction Increased antibody level in blood Decreased motor nerve conduction velocity Postural tremor Premature ovarian insufficiency Diplopia Sensory impairment Head tremor Polyneuropathy Abnormality of the foot Congestive heart failure Abnormal protein N-linked glycosylation Fatal liver failure in infancy Abnormal protein O-linked glycosylation Type II transferrin isoform profile Impaired smooth pursuit Impaired proprioception Memory impairment Blindness Generalized muscle weakness Muscle cramps Confusion Limb muscle weakness Proximal muscle weakness Rigidity Respiratory failure Optic atrophy Gait imbalance Impaired distal tactile sensation Chronic axonal neuropathy Diffuse cerebellar atrophy Impaired distal vibration sensation Elevated alpha-fetoprotein Pontocerebellar atrophy Conjunctival telangiectasia Saccadic smooth pursuit Sleep-wake inversion



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Single transverse palmar crease, related diseases and genetic alterations Melanoma and Hodgkin lymphoma, related diseases and genetic alterations Hyperreflexia and Ventricular hypertrophy, related diseases and genetic alterations Immunodeficiency and Frontal bossing, related diseases and genetic alterations Failure to thrive and Pancreatitis, related diseases and genetic alterations Hypertension and Short neck, related diseases and genetic alterations

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