Ataxia, and Insulin resistance

Diseases related with Ataxia and Insulin resistance

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


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Low match PROXIMAL MYOPATHY WITH EXTRAPYRAMIDAL SIGNS


Proximal myopathy with extrapyramidal signs is a rare, hereditary non-dystrophic myopathy characterized by proximal muscle weakness, delayed motor development, learning difficulties, and progressive extrapyramidal motor signs including chorea, dystonia and tremor. Variable additional features have been reported - ataxia, microcephaly, ophthalmoplegia, ptosis, and optic atrophy.

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Ataxia
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROXIMAL MYOPATHY WITH EXTRAPYRAMIDAL SIGNS

Low 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

Low match SEVERE NEURODEGENERATIVE SYNDROME WITH LIPODYSTROPHY


Severe neurodegenerative syndrome with lipodystrophy is a rare, genetic, neurodegenerative disorder characterized by progressive psychomotor and cognitive regression (manifesting with gait ataxia, spasticity, loss of language, mild to severe intellectual disability, pyramidal and extrapyramidal signs and, frequently, development of tretraplegia or tetraparesis) associated with variable degrees of lipodystrophy, hepatomegaly, hypertriglyceridemia and muscular hypertorphy. Hyperactivity, tremor and development of seizures may also be associated.

SEVERE NEURODEGENERATIVE SYNDROME WITH LIPODYSTROPHY Is also known as severe neurodegenerative syndrome due to bscl2 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Ataxia
  • Spasticity
  • Cognitive impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEVERE NEURODEGENERATIVE SYNDROME WITH LIPODYSTROPHY

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Other less relevant matches:

Low match PERMANENT NEONATAL DIABETES MELLITUS


Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM, see this term) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment.

PERMANENT NEONATAL DIABETES MELLITUS Is also known as monogenic diabetes of infancy|pndm

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about PERMANENT NEONATAL DIABETES MELLITUS

Low match HEMOCHROMATOSIS, TYPE 1; HFE1


Hereditary hemochromatosis is an autosomal recessive disorder of iron metabolism wherein the body accumulates excess iron (summary by Feder et al., 1996). Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading. Removal of excess iron by therapeutic phlebotomy decreases morbidity and mortality if instituted early in the course of the disease. Classic hemochromatosis (HFE) is most often caused by mutation in a gene designated HFE on chromosome 6p21.3.Adams and Barton (2007) reviewed the clinical features, pathophysiology, and management of hemochromatosis. Genetic Heterogeneity of HemochromatosisAt least 4 additional iron overload disorders labeled hemochromatosis have been identified on the basis of clinical, biochemical, and genetic characteristics. Juvenile hemochromatosis, or hemochromatosis type 2 (HFE2), is autosomal recessive and is divided into 2 forms: HFE2A (OMIM ), caused by mutation in the HJV gene (OMIM ) on chromosome 1q21, and HFE2B (OMIM ), caused by mutation in the HAMP gene (OMIM ) on chromosome 19q13. Hemochromatosis type 3 (HFE3 ), an autosomal recessive disorder, is caused by mutation in the TFR2 gene (OMIM ) on chromosome 7q22. Hemochromatosis type 4 (HFE4 ), an autosomal dominant disorder, is caused by mutation in the SLC40A1 gene (OMIM ) on chromosome 2q32. Hemochromatosis type 5 (HFE5 ) is caused by mutation in the FTH1 gene (OMIM ) on chromosome 11q12.

HEMOCHROMATOSIS, TYPE 1; HFE1 Is also known as hfe|hemochromatosis, hereditary|hemochromatosis|hh

Related symptoms:

  • Ataxia
  • Neoplasm
  • Pain
  • Anemia
  • Hepatomegaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEMOCHROMATOSIS, TYPE 1; HFE1

Low match FRIEDREICH ATAXIA


Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing.

FRIEDREICH ATAXIA Is also known as frda1|fa|frda

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about FRIEDREICH ATAXIA

Low match PMM2-CDG


PMM2-CDG is the most frequent form of congenital disorder of N-glycosylation and is characterized by cerebellar dysfunction, abnormal fat distribution, inverted nipples, strabismus and hypotonia. 3 forms of PMM2-CDG can be distinguished: the infantile multisystem type, late-infantile and childhood ataxia-intellectual disability type (3-10 yrs old), and the adult stable disability type. Infants usually develop ataxia, psychomotor delay and extraneurological manifestations including failure to thrive, enteropathy, hepatic dysfunction, coagulation abnormalities and cardiac and renal involvement. The phenotype is however highly variable and ranges from infants who die in the first year of life to mildly involved adults.

PMM2-CDG Is also known as jaeken syndrome|cdg-ia|cdg ia|cdg syndrome type ia|cdg1a|carbohydrate-deficient glycoprotein syndrome, type ia, formerly|carbohydrate deficient glycoprotein syndrome type ia|congenital disorder of glycosylation type 1a|phosphomannomutase 2 deficiency|cdgi

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about PMM2-CDG

Low match SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED


In patients with SSMED, short stature and microcephaly are apparent at birth, and there is progressive postnatal growth failure. Endocrine dysfunction, including hypergonadotropic hypogonadism, multinodular goiter, and diabetes mellitus, is present in affected adults. Progressive ataxia has been reported in some patients, with onset ranging from the second to fifth decade of life. In addition, a few patients have developed tumors, suggesting that there may be a predisposition to tumorigenesis. In contrast to syndromes involving defects in other components of the nonhomologous end-joining (NHEJ) complex (see, e.g., {606593}), no clinically overt immunodeficiency has been observed in SSMED, although laboratory analysis has revealed lymphopenia or borderline leukopenia in some patients (Murray et al., 2015; Bee et al., 2015; de Bruin et al., 2015; Guo et al., 2015).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED

Low match INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME


Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy.

INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME Is also known as primrose syndrome|ossified ear cartilages with mental deficiency, muscle wasting, and bony changes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME

Low match MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD


Congenital fiber-type disproportion (CFTD) myopathy is a genetically heterogeneous disorder in which there is relative hypotrophy of type 1 muscle fibers compared to type 2 fibers on skeletal muscle biopsy. However, these findings are not specific and can be found in many different myopathic and neuropathic conditions. Clarke and North (2003) stated that the diagnosis of 'congenital fiber-type disproportion' as a disease entity is one of exclusion. They also suggested that the nonspecific histologic findings should be termed 'fiber size disproportion,' thus reserving the term CFTD for those cases in which no secondary cause can be found.

MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD Is also known as cftdm|fiber-type disproportion myopathy, congenital

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD

Top 5 symptoms//phenotypes associated to Ataxia and Insulin resistance

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Cardiomyopathy Common - Between 50% and 80% cases
Diabetes mellitus Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Peripheral neuropathy Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Nystagmus Intellectual disability Babinski sign Dilated cardiomyopathy Osteopenia Gait ataxia Hypogonadism Myopathy Muscle weakness Ptosis Abnormal pyramidal sign Anemia Neoplasm Retinopathy Lower limb muscle weakness Dysmetria Pigmentary retinopathy Acanthosis nigricans Lipodystrophy Pes cavus Glucose intolerance Areflexia Seizures Kyphosis Gait disturbance Hepatomegaly Hepatic steatosis Cerebellar atrophy Abnormal glucose tolerance Cirrhosis Scoliosis Failure to thrive Cataract Insulin-resistant diabetes mellitus Microcephaly Tremor Dystonia Hypothyroidism Hypergonadotropic hypogonadism Skeletal muscle atrophy Peripheral axonal neuropathy Flexion contracture Growth delay Cryptorchidism Generalized hypotonia

Rare Symptoms - Less than 30% cases


Sensory axonal neuropathy Congestive heart failure Elevated hepatic transaminase Bradykinesia Dysdiadochokinesis Long face Osteoporosis Truncal ataxia Slurred speech Macrotia Arrhythmia Recurrent infections Fatigue Feeding difficulties Muscular hypotonia of the trunk Pain Spastic paraparesis Glycosuria Hyperglycemia Apraxia Downturned corners of mouth Intellectual disability, severe Intrauterine growth retardation Muscular hypotonia Abnormality of the liver Hepatic fibrosis Prominent nasal bridge Truncal obesity Sensory neuropathy Falls Progressive cerebellar ataxia Abnormality of eye movement Bilateral cryptorchidism Deeply set eye Midface retrusion Limb muscle weakness Hypertrophic cardiomyopathy Kyphoscoliosis Hypoplasia of the corpus callosum Increased reactive oxygen species production Peripheral demyelination Abnormal facial shape Short stature Respiratory distress Dysphagia Paraparesis Synophrys Dysarthria Strabismus Atrial fibrillation Clumsiness Neurodegeneration Polyneuropathy Centrally nucleated skeletal muscle fibers Congenital cataract Encephalopathy Hypertriglyceridemia Difficulty running Involuntary movements Hyperactivity Hypertonia Respiratory failure Developmental regression Respiratory insufficiency Delayed speech and language development Hyperinsulinemia Spasticity Micrognathia Rod-cone dystrophy Cognitive impairment Chorea Ophthalmoplegia Difficulty walking Optic atrophy Epidermal acanthosis Clonus Proximal muscle weakness Motor delay Brisk reflexes High forehead Abnormal lung morphology Small for gestational age Rigidity Postnatal growth retardation Sparse hair Attention deficit hyperactivity disorder Mandibular prognathia Micropenis Broad-based gait Severe short stature Short philtrum Cutaneous photosensitivity Respiratory insufficiency due to muscle weakness Renal hypoplasia Congenital hip dislocation Hypotelorism Waddling gait Limb undergrowth Decreased testicular size Convex nasal ridge Generalized muscle weakness Renal agenesis Broad nasal tip Inguinal hernia Hypermetropia Decreased fetal movement Hirsutism Triangular face Lumbar hyperlordosis Progressive muscle weakness Narrow face Sloping forehead Hip contracture Immunodeficiency Clinodactyly Limb joint contracture Stroke-like episode Prolonged partial thromboplastin time Nonimmune hydrops fetalis IgG deficiency Thrombocytosis Inverted nipples Atrophy/Degeneration affecting the brainstem IgA deficiency Nemaline bodies Spinal deformities Prolonged prothrombin time Pericardial effusion Premature ovarian insufficiency Hypoalbuminemia Amblyopia Nephrotic syndrome Postprandial hyperglycemia Epileptic encephalopathy Esotropia Renal cyst Olivopontocerebellar atrophy Proximal tubulopathy Obesity Hyperplastic labia majora Hernia Thrombocytopenia Infantile muscular hypotonia Long philtrum Multiple joint contractures Ventriculomegaly Bulbar palsy Weak cry Sensorineural hearing impairment Abnormal subcutaneous fat tissue distribution Hypocholesterolemia Olivopontocerebellar hypoplasia Reduced factor XI activity Reduced antithrombin III activity Congenital nephrotic syndrome Abnormality of the amniotic fluid Pontocerebellar atrophy Micronodular cirrhosis Diffuse mesangial sclerosis Type I transferrin isoform profile Lymphopenia Goiter Bone marrow hypocellularity Otitis media Thick lower lip vermilion Cerebral calcification Dystrophic fingernails Tics Generalized osteoporosis Bone cyst Hip dysplasia Recurrent ear infections Ectopic calcification Narrow iliac wings Abnormal form of the vertebral bodies Posterior polar cataract Nevus Absent axillary hair Hypoplasia of the maxilla Short distal phalanx of finger Distal amyotrophy Basilar impression Genu valgum Narrow chest Sparse scalp hair Thickened skin Protruding ear Metatarsus adductus Restlessness Irregular vertebral endplates Congenital hypothyroidism Sparse body hair Basal ganglia calcification Ankle clonus Poor coordination Mixed hearing impairment Anonychia Thoracic kyphosis Gynecomastia Melanocytic nevus Progressive gait ataxia Self-injurious behavior Broad face Schizophrenia Abnormal palate morphology Plagiocephaly Osteolysis Knee flexion contracture Retinal degeneration Aggressive behavior Muscular dystrophy Ectopic kidney Posterior scalloping of vertebral bodies Abnormality of lipid metabolism Cerebellar vermis atrophy Long nose Absent facial hair Increased size of the mandible Calcification of the auricular cartilage Cortical gyral simplification Superiorly displaced ears High palate Increased circulating gonadotropin level High pitched voice Neonatal hypotonia Joint laxity Unilateral renal agenesis Postural tremor Striae distensae Leukopenia Facial palsy Short chin Torus palatinus Low hanging columella Conductive hearing impairment Hydrocephalus Narrow mouth Autism Brachycephaly Agenesis of corpus callosum Pectus excavatum Microphthalmia Malar flattening Intellectual disability, mild Behavioral abnormality Anteverted nares Misalignment of teeth Motor tics Abnormality of the skeletal system Downslanted palpebral fissures Macrocephaly Long neck Gastrointestinal stroma tumor Multinodular goiter Glioma Chronic lung disease Shuffling gait Broad forehead Areflexia of lower limbs Severe global developmental delay Autoimmune antibody positivity Alopecia Splenomegaly Reduced pancreatic beta cells Contractures of the joints of the lower limbs Neonatal insulin-dependent diabetes mellitus Pancreatic hypoplasia Hypovolemia Microalbuminuria Abnormality of the upper urinary tract Ketonuria Arthralgia Renal tubular dysfunction Prominent metopic ridge Neurodevelopmental delay Bilateral ptosis Dehydration Generalized myoclonic seizures Coma Arthrogryposis multiplex congenita Generalized tonic-clonic seizures Abdominal pain Carcinoma Abnormal heart morphology Abnormal joint morphology Testicular atrophy Restrictive cardiomyopathy Neoplasm of the liver Acute hepatic failure Increased serum ferritin Hepatocellular carcinoma Pericarditis Osteomalacia Arthropathy Impotence Arthritis Pleural effusion Azoospermia Hypogonadotrophic hypogonadism Hyperpigmentation of the skin Telangiectasia Cardiomegaly Hepatitis Amenorrhea Ascites Hepatic failure Weight loss Reduced intraabdominal adipose tissue Microvesicular hepatic steatosis Abnormal basal ganglia MRI signal intensity Hyperlipidemia Pancreatitis Abnormality of the face Hypotension Distal sensory impairment Paresthesia Central core regions in muscle fibers Progressive extrapyramidal muscular rigidity Progressive extrapyramidal movement disorder Abnormal posturing Orthostatic hypotension Orofacial dyskinesia Resting tremor Mildly elevated creatine phosphokinase Increased variability in muscle fiber diameter Stereotypy Abnormality of extrapyramidal motor function Specific learning disability Dyskinesia Elevated serum creatine phosphokinase Hypercholesterolemia Absence of subcutaneous fat Poor motor coordination Status epilepticus Caudate atrophy Progressive psychomotor deterioration Generalized lipodystrophy Progressive encephalopathy Loss of speech Limb dystonia Reduced subcutaneous adipose tissue Generalized hirsutism Tetraparesis Neuronal loss in central nervous system Loss of subcutaneous adipose tissue in limbs Sleep disturbance Respiratory tract infection Mental deterioration Coarse facial features Myoclonus Cerebral atrophy Hyperreflexia Hypertension Decreased adipose tissue around neck Lack of facial subcutaneous fat Alcoholism Increased serum iron Feeding difficulties in infancy Abnormal saccadic eye movements Incomprehensible speech Upper limb amyotrophy Cerebellar cortical atrophy Concentric hypertrophic cardiomyopathy Diabetic ketoacidosis Decreased sensory nerve conduction velocity Reduced systolic function Hand muscle atrophy Sinus tachycardia Abnormality of cardiovascular system physiology Hemifacial hypertrophy Positive Romberg sign Lower limb amyotrophy Abnormal echocardiogram Poor fine motor coordination T-wave inversion Subvalvular aortic stenosis Asymmetric septal hypertrophy Impaired proprioception Gait imbalance Abnormality of the autonomic nervous system Decreased amplitude of sensory action potentials Hyposmia Depressed nasal bridge Abnormality of the eye Abnormality of the nervous system Proteinuria Thin upper lip vermilion Prominent forehead Cerebellar hypoplasia Hyporeflexia Diarrhea Vomiting Atrophic superior cerebellar peduncle Muscular subvalvular aortic stenosis Impaired visually enhanced vestibulo-ocular reflex Structural foot deformity Abolished vibration sense Spinal cord posterior columns myelin loss Palmar hyperhidrosis Temporal optic disc pallor Abnormality of the dentate nucleus Decreased pyruvate carboxylase activity Mitochondrial malic enzyme reduced Cervical spinal cord atrophy Spinocerebellar tract degeneration Myocardial fibrosis Cholangiocarcinoma Pallor Sensory impairment Chest pain Abnormal cerebellum morphology Inability to walk Tachycardia Vertigo Unsteady gait Abnormality of movement Abnormality of the foot Pes planus Ventricular hypertrophy Reduced visual acuity Cerebral cortical atrophy Visual loss Depressivity Talipes equinovarus Visual impairment Elevated transferrin saturation Aceruloplasminemia Constrictive pericarditis Optic disc pallor Intention tremor Ketoacidosis Decreased motor nerve conduction velocity Urinary bladder sphincter dysfunction Ketosis Heart block Abnormality of visual evoked potentials Abnormal EKG Thoracic scoliosis Optic neuropathy Hyperactive deep tendon reflexes Visual field defect Hammertoe Palpitations Impaired vibratory sensation Cachexia Incoordination Ventricular arrhythmia Reduced tendon reflexes Muscle stiffness Spastic gait Limb ataxia Lower limb spasticity Left ventricular hypertrophy Type 1 fibers relatively smaller than type 2 fibers



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Intrauterine growth retardation and Dehydration, related diseases and genetic alterations Congestive heart failure and Progressive hearing impairment, related diseases and genetic alterations Lymphoma and Hepatomegaly, related diseases and genetic alterations Hydrocephalus and Polymicrogyria, related diseases and genetic alterations Low-set ears and Generalized seizures, related diseases and genetic alterations Sensorineural hearing impairment and Autism, related diseases and genetic alterations

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