Dysarthria, and Insulin resistance

Diseases related with Dysarthria and Insulin resistance

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

Top matches:

Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.

WOODHOUSE-SAKATI SYNDROME Is also known as hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome|extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia|diabetes-hypogonadism-deafness-intellectual disability s

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about WOODHOUSE-SAKATI SYNDROME

Medium 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

Medium match MULIBREY NANISM

MULIBREY nanism (MUL) is a prenatal onset growth disorder with multiorgan manifestations.

MULIBREY NANISM Is also known as mulibrey dwarfism|pericardial constriction and growth failure|muscle-liver-brain-eye nanism|perheentupa syndrome|pericardial constriction-growth failure syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Hypertelorism


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MULIBREY NANISM

Other less relevant matches:

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

Essential tremor may be the most common human movement disorder. The main feature of essential tremor is postural tremor of the arms, but the head, legs, trunk, voice, jaw, and facial muscles also may be involved. Aggravated by emotions, hunger, fatigue, and temperature extremes, the condition may cause a functional disability or even incapacitation. Autosomal dominant inheritance can be demonstrated in most families (summary by Higgins et al., 1997).Deng et al. (2007) provided a detailed review of the genetics of essential tremor. Genetic Heterogeneity of Essential TremorOther forms of hereditary essential tremor include ETM2 (OMIM ), mapped to chromosome 2p25-p22; ETM3 (OMIM ), mapped to chromosome 6p23; ETM4 (OMIM ), caused by mutation in the FUS gene (OMIM ) on chromosome 16p11; and ETM5 (OMIM ), caused by mutation in the TENM4 gene (OMIM ) on chromosome 11q14.

TREMOR, HEREDITARY ESSENTIAL, 1; ETM1 Is also known as fet1|tremor, familial essential, 1

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Cognitive impairment
  • Dysarthria
  • Fever


SOURCES: OMIM MENDELIAN

More info about TREMOR, HEREDITARY ESSENTIAL, 1; ETM1

Low match KENNEDY DISEASE

Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterized by proximal and bulbar muscle wasting.

KENNEDY DISEASE Is also known as x-linked bulbospinal muscular atrophy|x-linked bsma|x-linked bulbospinal amyotrophy|x-linked spinal and bulbar muscular atrophy|smax1|sbma

Related symptoms:

  • Muscular hypotonia
  • Dysarthria
  • Skeletal muscle atrophy
  • Gait disturbance
  • Hyporeflexia


SOURCES: ORPHANET MENDELIAN

More info about KENNEDY DISEASE

AUTOSOMAL RECESSIVE ATAXIA DUE TO PEX10 DEFICIENCY Is also known as mild peroxismal disorder due to pex10 deficiency

Related symptoms:

  • Global developmental delay
  • Hyperreflexia
  • Dysarthria
  • Intellectual disability, mild
  • Pes cavus


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE ATAXIA DUE TO PEX10 DEFICIENCY

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

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Ataxia
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about POLYENDOCRINE-POLYNEUROPATHY SYNDROME

Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease.

CLASSIC GALACTOSEMIA Is also known as galt deficiency|galactose-1-phosphate uridyltransferase deficiency|galactosemia type 1

Related symptoms:

  • Intellectual disability
  • Ataxia
  • Failure to thrive
  • Cataract
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about CLASSIC GALACTOSEMIA

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

Symptoms // Phenotype % cases
Gait disturbance Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Dystonia Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Diabetes mellitus Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Abnormal pyramidal sign Abnormality of movement Pes cavus Intellectual disability Cognitive impairment Hypogonadism Tremor Cardiomyopathy Triangular face Polyneuropathy Progressive cerebellar ataxia Depressivity Hypoglycemia Global developmental delay Short stature Growth delay Acanthosis nigricans Sensory neuropathy Type II diabetes mellitus Mental deterioration Hypothyroidism Babinski sign Delayed speech and language development Hyperreflexia Peripheral neuropathy

Rare Symptoms - Less than 30% cases

Dilated cardiomyopathy Fatigue Feeding difficulties Muscular hypotonia Abnormal facial shape Strabismus Neoplasm Hypertelorism Sensorineural hearing impairment Limb ataxia Dysmetria Nystagmus Spasticity Seizures High palate Frontal bossing Cataract Sensory axonal neuropathy Heart block Congestive heart failure Myocardial fibrosis Intellectual disability, mild Falls Hyperactivity Cerebral atrophy Gait ataxia Postnatal growth retardation Rigidity Pigmentary retinopathy Cerebellar atrophy Failure to thrive Insulin-resistant diabetes mellitus Cachexia Motor delay Slurred speech High pitched voice Postural tremor Decreased testicular size Cirrhosis Scoliosis Micropenis Retinopathy High forehead Delayed puberty Dysdiadochokinesis Glucose intolerance Prominent nasal bridge Sparse hair Epidermal acanthosis Small for gestational age Abnormality of extrapyramidal motor function Intellectual disability, moderate Hypergonadotropic hypogonadism Hepatomegaly Truncal ataxia Intrauterine growth retardation Abnormality of lipid metabolism Premature ovarian insufficiency Ventriculomegaly Hypoplasia of the corpus callosum Severe short stature Reduced tendon reflexes Renal agenesis Renal hypoplasia Goiter Broad-based gait Broad nasal tip Synophrys Leukopenia Abnormal lung morphology Convex nasal ridge Apraxia Limb undergrowth Bone marrow hypocellularity Bradykinesia Cutaneous photosensitivity Short chin Lymphopenia Sloping forehead Hypotelorism Long face Cryptorchidism Hypermetropia Scaphocephaly Absent frontal sinuses Peripheral edema Fibroma Weak voice Prominent superficial veins Microglossia Pericarditis Hypoplastic frontal sinuses Slender long bone Pulmonary fibrosis Nephroblastoma Pointed chin Increased body weight Dental crowding J-shaped sella turcica Constrictive pericarditis Short philtrum Hernia Attention deficit hyperactivity disorder Deeply set eye Mandibular prognathia Inguinal hernia Clinodactyly Obesity Thrombocytopenia Pericardial constriction Midface retrusion Recurrent infections Immunodeficiency Long philtrum Anemia Microcephaly Unilateral renal agenesis Shuffling gait Bilateral cryptorchidism Sleep disturbance Hyperinsulinemia Lipodystrophy Generalized hirsutism Hypertriglyceridemia Tetraparesis Status epilepticus Neuronal loss in central nervous system Hepatic steatosis Reduced subcutaneous adipose tissue Respiratory tract infection Developmental regression Coarse facial features Respiratory failure Myoclonus Encephalopathy Hypertonia Myopathy Brisk reflexes Limb dystonia Hypertension Central hypothyroidism Abnormal bleeding Hepatic failure Nausea and vomiting Speech apraxia Lethargy Jaundice Weight loss Osteoporosis Progressive hearing impairment Loss of speech Type I diabetes mellitus Cerebellar hypoplasia Reduced intraabdominal adipose tissue Poor motor coordination Caudate atrophy Progressive psychomotor deterioration Generalized lipodystrophy Progressive encephalopathy Respiratory insufficiency Abnormality of phytanic acid metabolism Ectopic kidney Glioma Parkinsonism Speech articulation difficulties Anxiety Dementia Fever Long neck Gastrointestinal stroma tumor Multinodular goiter Chronic lung disease Personality changes Sepsis Misalignment of teeth Low hanging columella Increased circulating gonadotropin level Cerebellar vermis atrophy Long nose Truncal obesity Cortical gyral simplification Memory impairment Resting tremor Very long chain fatty acid accumulation Oculomotor apraxia Abnormality of the ovary Abnormal head movements Diffuse cerebellar atrophy Mydriasis Motor axonal neuropathy Decreased fertility in females Impaired smooth pursuit Progressive gait ataxia Erectile abnormalities Hand tremor Testicular atrophy Decreased fertility Dysphonia Gynecomastia Hyporeflexia Skeletal muscle atrophy Kinetic tremor Head tremor Migraine Abolished vibration sense Overgrowth Visual loss Pes planus Kyphoscoliosis Reduced visual acuity Cerebral cortical atrophy Areflexia Arrhythmia Kyphosis Hypertrophic cardiomyopathy Respiratory distress Talipes equinovarus Dysphagia Optic atrophy Visual impairment Ptosis Pain Difficulty walking Pallor Progressive alopecia Neurodegeneration Ventricular hypertrophy Optic disc pallor Peripheral demyelination Sensory impairment Chorea Chest pain Abnormal cerebellum morphology Inability to walk Limb muscle weakness Tachycardia Peripheral axonal neuropathy Vertigo Unsteady gait Lower limb muscle weakness Abnormality of eye movement Abnormality of the foot Muscle weakness Hypoplasia of the fallopian tube Atrial fibrillation Prominent nose Myocardial infarction Fine hair Psychosis Bilateral sensorineural hearing impairment Dehydration Amenorrhea Dental malocclusion Hypotrichosis Sparse scalp hair Arthrogryposis multiplex congenita Protruding ear Camptodactyly Alopecia Abnormality of metabolism/homeostasis Diarrhea Downslanted palpebral fissures Primary amenorrhea Choreoathetosis Progressive extrapyramidal movement disorder Anodontia Decreased serum insulin-like growth factor 1 Streak ovary Increased thyroid-stimulating hormone level Abnormal spermatogenesis Abnormal T-wave Decreased serum estradiol Decreased serum testosterone level Autoimmune thrombocytopenia Hallucinations Hypoplasia of the uterus Aplasia/Hypoplasia of the eyebrow Flat occiput Sparse eyebrow Hyperlipidemia Purpura Hypogonadotrophic hypogonadism Intention tremor Palpitations Cyanosis Muscular subvalvular aortic stenosis 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 Decreased amplitude of sensory action potentials Impaired visually enhanced vestibulo-ocular reflex Hemifacial hypertrophy Abnormality of the autonomic nervous system Incomprehensible speech Upper limb amyotrophy Cerebellar cortical atrophy Concentric hypertrophic cardiomyopathy Diabetic ketoacidosis Structural foot deformity Atrophic superior cerebellar peduncle Reduced systolic function Infertility Growth hormone deficiency Decreased antibody level in blood Nevus Abdominal distention Ascites Hypodontia Astigmatism Dolichocephaly Generalized hypotonia Broad forehead Abnormality of the nervous system Hepatosplenomegaly Edema Macrocephaly Wide nasal bridge Depressed nasal bridge Decreased sensory nerve conduction velocity Hand muscle atrophy Clumsiness Incoordination Thoracic scoliosis Optic neuropathy Hyperactive deep tendon reflexes Visual field defect Decreased motor nerve conduction velocity Hammertoe Impaired vibratory sensation Ventricular arrhythmia Abnormality of visual evoked potentials Spastic paraparesis Paraparesis Muscle stiffness Spastic gait Lower limb spasticity Left ventricular hypertrophy Involuntary movements Abnormal EKG Ketosis Sinus tachycardia Subvalvular aortic stenosis Abnormal saccadic eye movements Abnormality of cardiovascular system physiology Positive Romberg sign Lower limb amyotrophy Abnormal echocardiogram Poor fine motor coordination T-wave inversion Asymmetric septal hypertrophy Urinary bladder sphincter dysfunction Impaired proprioception Gait imbalance Spinocerebellar tract degeneration Hyposmia Areflexia of lower limbs Increased reactive oxygen species production Ketoacidosis Impairment of galactose metabolism


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