Hyperreflexia, and Diabetes mellitus

Diseases related with Hyperreflexia and Diabetes mellitus

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

Top matches:

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

PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE; PARK2 Is also known as pdj|parkinson disease, juvenile, autosomal recessive|parkinsonism, early-onset, with diurnal fluctuation|epdf

Related symptoms:

  • Neoplasm
  • Peripheral neuropathy
  • Hyperreflexia
  • Tremor
  • Gait disturbance


SOURCES: OMIM MENDELIAN

More info about PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE; PARK2

MT-ATP6-related mitochondrial spastic paraplegia is a rare, genetic, complex hereditary spastic paraplegia disorder characterized by adulthood-onset of slowly progressive, bilateral, mainly lower limb spasticity and distal weakness associated with lower limb pain, hyperreflexia, and reduced vibration sense. Axonal neuropathy is frequently observed on electromyography and nerve conduction examination.

MT-ATP6-RELATED MITOCHONDRIAL SPASTIC PARAPLEGIA Is also known as maternally-inherited spastic paraplegia|maternally-inherited spg

Related symptoms:

  • Hyperreflexia
  • Optic atrophy
  • Cardiomyopathy
  • Babinski sign
  • Diabetes mellitus


SOURCES: ORPHANET MENDELIAN

More info about MT-ATP6-RELATED MITOCHONDRIAL SPASTIC PARAPLEGIA

Other less relevant matches:

Microcephaly-2 with or without cortical malformations is an autosomal recessive neurodevelopmental disorder showing phenotypic variability. Classically, primary microcephaly is a clinical diagnosis made when an individual has a head circumference more than 3 standard deviations (SD) below the age- and sex-matched population mean, and mental retardation with no other associated malformations and with no apparent etiology (Hofman, 1984). Patients with WDR62 mutations have head circumferences ranging from low-normal to severe (-9.8 SD), and most patients with brain scans have shown various types of cortical malformations. All have delayed psychomotor development; seizures are variable (summary by Yu et al., 2010).For a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay


SOURCES: OMIM MESH MENDELIAN

More info about MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS; MCPH2

Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades.

Related symptoms:

  • Intellectual disability
  • Nystagmus
  • Sensorineural hearing impairment
  • Cataract
  • Visual impairment


SOURCES: ORPHANET MENDELIAN

More info about RETINITIS PIGMENTOSA

Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is a polymorphic disorder and a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia.

AUTOSOMAL DOMINANT CEREBELLAR ATAXIA-DEAFNESS-NARCOLEPSY SYNDROME Is also known as adca-dn syndrome

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment
  • Cataract


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT CEREBELLAR ATAXIA-DEAFNESS-NARCOLEPSY SYNDROME

MYOPATHY AND DIABETES MELLITUS Is also known as mitochondrial myopathy, lipid type

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Muscle weakness
  • Muscular hypotonia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MYOPATHY AND DIABETES MELLITUS

Autosomal recessive spastic paraplegia type 15 is a complex form of hereditary spastic paraplegia characterized by a childhood to adulthood onset of slowly progressive lower limb spasticity (resulting in gait disturbance, extensor plantar responses and decreased vibration sense) associated with mild intellectual disability, mild cerebellar ataxia, peripheral neuropathy (with distal upper limb amyotrophy) and retinal degeneration. Thin corpus callosum is a common imaging finding.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 15 Is also known as spg15|spastic paraplegia and retinal degeneration|kjellin syndrome|hereditary spastic paraparesis type 15|spastic paraplegia-retinal degeneration syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 15

Juvenile Huntington disease (JHD) is a form of Huntington disease (HD; see this term), characterized by onset of signs and symptoms before 20 years of age.

JUVENILE HUNTINGTON DISEASE Is also known as huntington chorea|jhd|juvenile huntington chorea

Related symptoms:

  • Seizures
  • Ataxia
  • Cognitive impairment
  • Anemia
  • Delayed speech and language development


SOURCES: OMIM ORPHANET MENDELIAN

More info about JUVENILE HUNTINGTON DISEASE

Low match MEHMO SYNDROME

MEHMO syndrome is characterised by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism, and obesity. Growth delay and diabetes are also present. To date, it has been described in seven boys, all of whom died within the first two years of life. The causative gene has been localised to the 21.1-22.13p region of the X chromosome and the syndrome appears to result from mitochondrial dysfunction.

MEHMO SYNDROME Is also known as mental retardation, x-linked, syndromic 25|mental retardation, x-linked, syndromic, borck type|x-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome|mrxs25|mrxsbrk|mrxs20|mental retardation, x-linked, syndromic 2

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MEHMO SYNDROME

Top 5 symptoms//phenotypes associated to Hyperreflexia and Diabetes mellitus

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Abnormal cerebellum morphology Uncommon - Between 30% and 50% cases
Tremor Uncommon - Between 30% and 50% cases
Peripheral neuropathy Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hyperreflexia and Diabetes mellitus. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Babinski sign Ataxia Dementia Type II diabetes mellitus Nystagmus Dysarthria Delayed speech and language development Hypoplasia of the corpus callosum Hyperactivity Aggressive behavior Lower limb spasticity Difficulty walking Optic atrophy Neuronal loss in central nervous system Abnormality of the cerebral white matter Mental deterioration Peripheral axonal neuropathy Global developmental delay Spasticity Gait disturbance Progressive cerebellar ataxia

Rare Symptoms - Less than 30% cases

Intellectual disability, severe Wide nasal bridge Abnormality of eye movement Sensorineural hearing impairment Leg muscle stiffness Abnormal pyramidal sign Microcephaly Growth delay Micrognathia Abnormal facial shape Rigidity Muscular hypotonia Psychosis Long philtrum Absent speech Muscle weakness Head tremor Generalized hypotonia Sloping forehead Spastic tetraparesis Cataract Visual impairment Obesity Pes cavus Abnormality of movement Dystonia Cerebellar atrophy Depressivity Gliosis Cognitive impairment Bradykinesia Impaired vibratory sensation Hypogonadism Tetraparesis Hypoplasia of penis Behavioral abnormality Polyneuropathy Ventriculomegaly Urinary incontinence Sensory neuropathy Gait ataxia Hyperkinesis Progressive neurologic deterioration Generalized-onset seizure Broad-based gait Incoordination Rheumatoid arthritis Schizophrenia Clumsiness Slurred speech Involuntary movements Urinary urgency Upper limb spasticity Brain atrophy Weight loss Pseudobulbar paralysis Mood swings Functional abnormality of the bladder Retinal flecks Deep cerebral white matter hyperdensities Yellow/white lesions of the retina Anemia Hypertension Dysphagia Myoclonus Saccadic smooth pursuit Demyelinating peripheral neuropathy Upper limb muscle weakness Chorea Arthritis Anxiety Irritability Urinary bladder sphincter dysfunction Hand tremor Frontotemporal dementia Progressive spasticity Lower limb hyperreflexia Generalized amyotrophy Infertility Falls Neurodegeneration Cough Frequent temper tantrums Personality changes Full cheeks Cleft lip Attention deficit hyperactivity disorder Small for gestational age Severe global developmental delay Delayed puberty Poor speech Lactic acidosis Long face Inability to walk Thick vermilion border Downturned corners of mouth Tapered finger Broad nasal tip Round face Hypoglycemia Growth hormone deficiency Open mouth Progressive microcephaly Pancreatitis Widely spaced teeth Drooling Agitation External genital hypoplasia Depressed nasal tip Large earlobe Male hypogonadism Abdominal obesity Birth length less than 3rd percentile Muscular hypotonia of the trunk EEG abnormality Obsessive-compulsive behavior Neuronal loss in basal ganglia Akinesia Hypokinesia Muscle fibrillation Bronchitis Cerebellar vermis atrophy Restlessness Upper limb undergrowth Chronic bronchitis Dilated fourth ventricle Testicular atrophy Paranoia Mania Abnormal involuntary eye movements Suicidal ideation Macrotia Macular degeneration Oral motor hypotonia Short stature Strabismus Cleft palate Cryptorchidism Myopia Talipes equinovarus Hypertonia Hypospadias Micropenis Autism Acidosis Bowel incontinence Motor delay Clonus Thick lower lip vermilion Progressive spastic paraplegia Impaired vibration sensation in the lower limbs Distal lower limb muscle weakness Supraventricular arrhythmia Lower limb pain Intrauterine growth retardation Cerebellar hypoplasia Intellectual disability, moderate Polymicrogyria Decreased fetal movement Hemiparesis Cardiomyopathy Heterotopia Pachygyria Lissencephaly Impulsivity Cortical gyral simplification Maternal diabetes Abnormal corpus callosum morphology Schizencephaly Anteverted nares Blindness Glaucoma Increased serum lactate Substantia nigra gliosis Conductive hearing impairment Very long chain fatty acid accumulation Intellectual disability, mild Limb ataxia Truncal ataxia Oculomotor apraxia Progressive gait ataxia Impaired smooth pursuit Motor axonal neuropathy Mydriasis Diffuse cerebellar atrophy Abnormal head movements Abnormality of phytanic acid metabolism Cogwheel rigidity Neoplasm Respiratory failure Dyskinesia Postural instability Parkinsonism Alzheimer disease Sensory axonal neuropathy Neurofibrillary tangles Lewy bodies Senile plaques Olivopontocerebellar atrophy Photophobia Ophthalmoplegia Spastic gait Peripheral arterial stenosis Myalgia Facial palsy Limb muscle weakness Progressive muscle weakness Type I diabetes mellitus Exercise intolerance Ragged-red muscle fibers EMG: myopathic abnormalities Mitochondrial myopathy Proximal amyotrophy Decreased activity of mitochondrial complex IV Elevated serum creatine phosphokinase Weakness of orbicularis oculi muscle Skeletal muscle atrophy Reduced visual acuity Spastic paraplegia Paraplegia Lower limb muscle weakness Retinal degeneration Distal amyotrophy Specific learning disability Pigmentary retinopathy Abnormality of extrapyramidal motor function Proximal muscle weakness Hyporeflexia Abnormality of retinal pigmentation Lymphedema Abnormal electroretinogram Hyperinsulinemia Keratoconus Atypical scarring of skin Abnormality of the testis Abnormality of the retinal vasculature Progressive night blindness Hearing impairment Cerebral atrophy Abnormality of the nervous system Memory impairment Abnormality of mitochondrial metabolism Myopathy Resting tremor Atrophy/Degeneration affecting the brainstem Primitive reflex Abnormality of the cerebrospinal fluid Excessive daytime sleepiness Narcolepsy Cataplexy Pseudobulbar signs Predominantly lower limb lymphedema Dilated third ventricle Fatigue Tall chin


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