Dysarthria, and Primary amenorrhea

Diseases related with Dysarthria and Primary amenorrhea

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


Top matches:

High match BOUCHER-NEUHAUSER SYNDROME; BNHS


Boucher-Neuhauser syndrome is an autosomal recessive disorder characterized classically by the triad of spinocerebellar ataxia, hypogonadotropic hypogonadism, and visual impairment due to chorioretinal dystrophy. The age at onset is variable, but most patients develop one or more symptoms in the first decade of life. Chorioretinal dystrophy may not always be present. BNHS is part of a spectrum of neurodegenerative diseases associated with mutations in the PNPLA6 gene that also includes spastic paraplegia-39 (SPG39 ) (summary by Synofzik et al., 2014).See also Gordon Holmes syndrome (GDHS ), caused by mutation in the RNF216 gene (OMIM ), which is also characterized by the combination of cerebellar ataxia and hypogonadotropic hypogonadism.

BOUCHER-NEUHAUSER SYNDROME; BNHS Is also known as spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy

Related symptoms:

  • Ataxia
  • Spasticity
  • Cognitive impairment
  • Visual impairment
  • Dysarthria


SOURCES: OMIM MENDELIAN

More info about BOUCHER-NEUHAUSER SYNDROME; BNHS

High match LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM


Vanishing white matter leukodystrophy is an autosomal recessive neurologic disorder characterized by variable neurologic features, including progressive cerebellar ataxia, spasticity, and cognitive impairment associated with white matter lesions on brain imaging. The age at onset can range from early infancy to adulthood. Rapid neurologic deterioration can occur following minor head trauma. Female mutation carriers may develop ovarian failure, manifest as primary amenorrhea or as secondary amenorrhea lasting more than 6 months, associated with elevated gonadotropin levels at age less than 40 years (summary by Van der Knaap et al., 1998 and Schiffmann et al., 1997).

LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM Is also known as cach|cle|childhood ataxia with central nervous system hypomyelinization|cree leukoencephalopathy|vanishing white matter leukodystrophy

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Muscle weakness
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM

High match PERRAULT SYNDROME


Perrault syndrome (PS) is characterized by the association of ovarian dysgenesis in females with sensorineural hearing impairment. In more recent PS reports, some authors have described neurologic abnormalities, notably progressive cerebellar ataxia and intellectual deficit.

PERRAULT SYNDROME Is also known as ovarian dysgenesis with sensorineural deafness|gonadal dysgenesis, xx type, with deafness|xx gonodal dysgenesis-deafness syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PERRAULT SYNDROME

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Other less relevant matches:

High match KALLMANN SYNDROME


Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs).

KALLMANN SYNDROME Is also known as congenital hypogonadotropic hypogonadism with anosmia|olfacto-genital pathological sequence

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about KALLMANN SYNDROME

High match WOODHOUSE-SAKATI SYNDROME


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

High match AUTOSOMAL DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA


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. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. Both autosomal dominant and autosomal recessive inheritance can occur; autosomal recessive inheritance is usually more severe (Filosto et al., 2003; Luoma et al., 2004).PEO caused by mutation in the POLG gene is associated with more complicated phenotypes than those forms caused by mutation in the ANT1 or C10ORF2 genes (Lamantea et al., 2002). Genetic Heterogeneity of Autosomal Dominant Progressive External Ophthalmoplegia with DNA DeletionsSee also PEOA2 (OMIM ), caused by mutation in the ANT1 gene (SLC25A4 ) on chromosome 4q34; PEOA3 (OMIM ), caused by mutation in the twinkle gene (C10ORF2 ) on chromosome 10q24; PEOA4 (OMIM ), caused by mutation in the POLG2 gene (OMIM ) on chromosome 17q; PEOA5 (OMIM ), caused by mutation in the RRM2B gene (OMIM ) on chromosome 8q23; and PEOA6 (OMIM ), caused by mutation in the DNA2 gene (OMIM ) on chromosome 10q.

AUTOSOMAL DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA Is also known as progressive external ophthalmoplegia, autosomal dominant 1|adpeo

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA

Medium match LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE; LKENP


Progressive leukoencephalopathy with ovarian failure is an autosomal recessive neurodegenerative disorder characterized by loss of motor and cognitive skills, usually with onset in young adulthood. Some patients may have a history of delayed motor development or learning difficulties in early childhood. Neurologic decline is severe, usually resulting in gait difficulties, ataxia, spasticity, and cognitive decline and dementia. Most patients lose speech and become wheelchair-bound or bedridden. Brain MRI shows progressive white matter signal abnormalities in the deep white matter. Affected females develop premature ovarian failure (summary by Dallabona et al., 2014).

Related symptoms:

  • Ataxia
  • Nystagmus
  • Spasticity
  • Motor delay
  • Dysarthria


SOURCES: OMIM MENDELIAN

More info about LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE; LKENP

Medium 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

Medium match ALEXANDER DISEASE; ALXDRD


In decreasing order of frequency, 3 forms of Alexander disease are recognized, based on age of onset: infantile, juvenile, and adult. Younger patients typically present with seizures, megalencephaly, developmental delay, and spasticity. In older patients, bulbar or pseudobulbar symptoms predominate, frequently accompanied by spasticity. The disease is progressive, with most patients dying within 10 years of onset. Imaging studies of the brain typically show cerebral white matter abnormalities, preferentially affecting the frontal region (Gorospe et al., 2002). All 3 forms have been shown to be caused by mutations in the GFAP gene.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALEXANDER DISEASE; ALXDRD

Medium match WEAVER SYNDROME; WVS


Weaver syndrome comprises pre- and postnatal overgrowth, accelerated osseous maturation, characteristic craniofacial appearance, and developmental delay. Most cases are sporadic, although autosomal dominant inheritance has been reported. Although there is phenotypic overlap between Weaver syndrome and Sotos syndrome (OMIM ), distinguishing features of Weaver syndrome include broad forehead and face, ocular hypertelorism, prominent wide philtrum, micrognathia, deep horizontal chin groove, and deep-set nails. In addition, carpal bone development is advanced over the rest of the hand in Weaver syndrome, whereas in Sotos syndrome carpal bone development is at or behind that of the rest of the hand (summary by Basel-Vanagaite, 2010).The 'Weaver-like' syndrome reported by Stoll et al. (1985) in a mother and son may be a separate entity.Sotos syndrome (OMIM ), which shows considerable phenotypic overlap with Weaver syndrome, is caused by mutation in the NSD1 gene (OMIM ) on chromosome 5q35.

WEAVER SYNDROME; WVS Is also known as weaver-smith syndrome|wss

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about WEAVER SYNDROME; WVS

Top 5 symptoms//phenotypes associated to Dysarthria and Primary amenorrhea

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

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

Common Symptoms - More than 50% cases


Spasticity

Uncommon Symptoms - Between 30% and 50% cases


Tremor Secondary amenorrhea Intellectual disability Hyporeflexia Ptosis Sensorineural hearing impairment Premature ovarian insufficiency Muscle weakness Peripheral neuropathy Muscular hypotonia Scoliosis Depressivity Hearing impairment Pes cavus Nystagmus Diabetes mellitus Sensory neuropathy Dementia Mental deterioration Visual impairment Hypogonadism Hypothyroidism Delayed puberty Gait ataxia Cerebellar atrophy Macrocephaly Dysphonia Abnormality of the cerebral white matter Areflexia Skeletal muscle atrophy High palate Hypogonadotrophic hypogonadism Motor delay Hyperreflexia Global developmental delay Leukoencephalopathy Ragged-red muscle fibers Generalized hypotonia Respiratory insufficiency Gliosis Ophthalmoplegia Delayed speech and language development Dysphagia

Rare Symptoms - Less than 30% cases


Decreased serum testosterone level Progressive muscle weakness Kyphosis Exercise intolerance Gonadal dysgenesis Left ventricular hypertrophy Fine hair Bilateral ptosis External ophthalmoplegia Sensorimotor neuropathy Polyneuropathy Peripheral axonal neuropathy Increased serum lactate Hypergonadotropic hypogonadism Dysmetria Osteoporosis Bradykinesia Delayed skeletal maturation Abnormality of extrapyramidal motor function Rigidity Dystonia Frontal bossing Camptodactyly Downslanted palpebral fissures Hypertelorism Sparse hair Hypertonia Fatigue Arrhythmia Elevated serum creatine phosphokinase Constipation Cataract Proximal muscle weakness Migraine Cardiomyopathy Myalgia Facial palsy Failure to thrive Decreased testicular size Limb muscle weakness Abnormality of eye movement Hyperhidrosis Micropenis Myopathy Muscle cramps Parkinsonism Cryptorchidism EMG: myopathic abnormalities Abnormal facial shape Progressive external ophthalmoplegia Leukodystrophy Intellectual disability, mild Encephalitis Lethargy Bipolar affective disorder Pain Muscle stiffness Mitochondrial myopathy Developmental regression Diplopia Coma Unsteady gait Multiple mitochondrial DNA deletions Peripheral demyelination Infertility Emotional lability Resting tremor Paraplegia Ophthalmoparesis Short neck Talipes equinovarus Flat occiput Short stature Abnormality of metabolism/homeostasis Vomiting Sensory axonal neuropathy Diarrhea Cerebral atrophy Cytochrome C oxidase-negative muscle fibers Subsarcolemmal accumulations of abnormally shaped mitochondria Memory impairment Loss of speech Periventricular leukomalacia Neurological speech impairment Congenital nystagmus Progressive gait ataxia Growth delay Nausea and vomiting Sleep disturbance Tetraplegia Sudden cardiac death Chorea Hypotension Apraxia Cerebral calcification Clonus Abnormal autonomic nervous system physiology Sleep apnea Precocious puberty Self-injurious behavior Oral-pharyngeal dysphagia Progressive leukoencephalopathy Brain atrophy Cerebral cortical atrophy Progressive hearing impairment Sensory ataxia Limb-girdle muscle weakness Insomnia Abnormality of the thyroid gland Feeding difficulties Coronary artery atherosclerosis Ventricular fibrillation Apathy Hypertension Hydrocephalus Mutism Agenesis of corpus callosum Bradycardia Severe global developmental delay Status epilepticus Respiratory failure Weight loss Osteopenia Ventricular hypertrophy EEG abnormality Hyperlordosis Abnormal pyramidal sign Cough Generalized muscle weakness Paresthesia Lower limb muscle weakness Dysphasia Macrotia Bowel incontinence Metatarsus adductus Down-sloping shoulders Prolactin excess Acute lymphoblastic leukemia Inverted nipples Absent septum pellucidum Limited elbow extension Bilateral talipes equinovarus Large for gestational age Overlapping toe Radial deviation of finger Hypoplastic iliac wing Large hands Back pain Slurred speech Cutis laxa Accelerated skeletal maturation Coxa valga Pointed chin Short ribs Hoarse voice Diastasis recti Hydrocele testis Lymphedema Short fourth metatarsal Flared humeral metaphysis Abnormally low-pitched voice Limited knee extension Flared femoral metaphysis Lumbar kyphosis Sacrococcygeal teratoma Deep-set nails Horizontal eyebrow Vertebral wedging Prominent fingertip pads Large earlobe Galactorrhea Teratoma Thin nail Thoracolumbar kyphosis Calcaneovalgus deformity Poor fine motor coordination Dimple chin Broad philtrum Dilation of lateral ventricles Broad face Joint contracture of the hand Tall stature Progressive spasticity Large face Strabismus Micrognathia Neoplasm Diffuse demyelination of the cerebral white matter Microcoria Hyperpigmented nevi Recurrent singultus Progressive macrocephaly Pseudobulbar signs Hypersomnia Depressed nasal bridge Aqueductal stenosis Bulbar signs Hypothermia Megalencephaly Poor coordination Increased CSF protein Drowsiness Atrophy/Degeneration affecting the brainstem Muscle fibrillation Flexion contracture Epicanthus Broad thumb Broad forehead Pachygyria Hypertrichosis Overgrowth Nail dysplasia Lymphoma Round face Talipes Platyspondyly Leukemia Abnormality of the pinna Behavioral abnormality Joint laxity Neonatal hypotonia Umbilical hernia Retrognathia Mandibular prognathia Prominent forehead Inguinal hernia Clinodactyly Hernia Long philtrum Neurodegeneration Abnormality of the liver Focal white matter lesions Progressive peripheral neuropathy Skeletal dysplasia Obesity Abnormality of cardiovascular system morphology Cleft palate Internuclear ophthalmoplegia Limited extraocular movements Titubation Ichthyosis Amelogenesis imperfecta Retinal atrophy Increased circulating gonadotropin level Severe sensorineural hearing impairment Spastic diplegia Hammertoe Hyperkinesis Pes planus Recurrent fractures Rod-cone dystrophy Hyposmia Hypothalamic gonadotropin-releasing hormone deficiency Erectile abnormalities Dyspareunia Bimanual synkinesia Breast hypoplasia Abnormality of female internal genitalia Anterior hypopituitarism Decreased fertility Renal agenesis Abnormality of color vision Abnormality of the voice Reduced number of teeth Anosmia Reduced bone mineral density Gynecomastia Hypoplasia of penis Abnormality of the nervous system Cerebellar hypoplasia Alopecia Scanning speech Encephalopathy Blindness Optic atrophy Fever Spinocerebellar atrophy Chorioretinal dystrophy Abnormal upper motor neuron morphology Chorioretinal atrophy Progressive cerebellar ataxia Intention tremor Progressive visual loss Retinal dystrophy Distal amyotrophy Spastic paraplegia Photophobia Visual loss Distal muscle weakness Hemiparesis Decreased circulating progesterone Delusions Cessation of head growth Spastic hemiparesis Rapid neurologic deterioration Diffuse leukoencephalopathy Primary gonadal insufficiency Cerebral hypomyelination CNS demyelination Hyperventilation Progressive neurologic deterioration Progressive encephalopathy Axonal degeneration Personality changes CNS hypomyelination Spastic paraparesis Paraparesis Spastic gait Babinski sign High forehead Quadriceps muscle weakness Easy fatigability Exertional dyspnea Hypokinesia Difficulty climbing stairs Glucose intolerance Increased variability in muscle fiber diameter Abnormality of mitochondrial metabolism Goiter Hyperthyroidism Ventricular arrhythmia Cerebral visual impairment Frequent falls Palpitations Atrial fibrillation Pigmentary retinopathy Lactic acidosis Rhabdomyolysis Ketosis Dilated cardiomyopathy Cogwheel rigidity Progressive ophthalmoplegia Acute rhabdomyolysis Impaired distal proprioception Nocturia Impaired distal vibration sensation Muscle fiber necrosis Gastroparesis Parkinsonism with favorable response to dopaminergic medication Facial diplegia Testicular atrophy Abnormality of the mitochondrion Skeletal myopathy Absent Achilles reflex Reduced ejection fraction Shoulder girdle muscle weakness Hypomimic face Congenital cataract Retinopathy Protruding ear Bilateral sensorineural hearing impairment Hyperlipidemia Purpura Hallucinations Choreoathetosis Sparse scalp hair Myocardial infarction Psychosis Dehydration Aplasia/Hypoplasia of the eyebrow Dental malocclusion Prominent nose Triangular face Abnormality of movement Hypotrichosis Arthrogryposis multiplex congenita Prominent nasal bridge Sparse eyebrow Hypoplasia of the uterus Anxiety Decreased serum insulin-like growth factor 1 Elevated hepatic transaminase Gastroesophageal reflux Acidosis Edema Progressive alopecia Hypoplasia of the fallopian tube Progressive extrapyramidal movement disorder Streak ovary Autoimmune thrombocytopenia Increased thyroid-stimulating hormone level Abnormal spermatogenesis Abnormal T-wave Decreased serum estradiol Anodontia Heart block Insulin-resistant diabetes mellitus Dysharmonic bone age



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