Hyperreflexia, and Primary amenorrhea

Diseases related with Hyperreflexia and Primary amenorrhea

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

Top matches:

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

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 H SYNDROME

H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML).

H SYNDROME Is also known as sinus histiocytosis and massive lymphadenopathy|hjcd|shml|hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss|h syndrome|faisalabad histiocytosis|pigmented hypertrichosis wi

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about H SYNDROME

Other less relevant matches:

46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome is a rare, genetic, developmental defect during embryogenesis disorder characterized by partial (unilateral testis, persistence of Müllerian duct structures) or complete (streak gonads only) gonadal dysgenesis, usually manifesting with primary amenorrhea in individuals with female phenotype but 46,XY karyotype, and sensorimotor dysmyelinating minifascicular polyneuropathy, which presents with numbness, weakness, exercise-induced muscle cramps, sensory disturbances and reduced/absent deep tendon reflexes. Germ cell tumors (seminoma, dysgerminoma, gonadoblastoma) may develop from the gonadal tissue.

Related symptoms:

  • Skeletal muscle atrophy
  • Pes cavus
  • Distal muscle weakness
  • Infertility
  • Polyneuropathy


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 46,XY GONADAL DYSGENESIS-MOTOR AND SENSORY NEUROPATHY SYNDROME

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

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about PERRAULT SYNDROME 5; PRLTS5

Medium 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

Deafness-enamel hypoplasia-nail defects syndrome is characterised by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects (Beau's lines and leukonychia). Less than 10 patients have been described so far. Transmission is autosomal recessive.

DEAFNESS-ENAMEL HYPOPLASIA-NAIL DEFECTS SYNDROME Is also known as heimler syndrome|hearing loss, sensorineural, with enamel hypoplasia and nail defects|pbd1c|peroxisome biogenesis disorder 1c

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Peripheral neuropathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about DEAFNESS-ENAMEL HYPOPLASIA-NAIL DEFECTS SYNDROME

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

Progressive external ophthalmoplegia-myopathy-emaciation syndrome is a rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterized by progressive external ophthalmoplegia without diplopia, cerebellar atrophy, proximal skeletal muscle weakness with generalized muscle wasting, profound emaciation, respiratory failure, spinal deformity and facial muscle weakness (manifesting with ptosis, dysphonia, dysphagia and nasal speech). Intellectual disability, gastrointestinal symptoms (e.g. nausea, abdominal fullness, and loss of appetite), dilated cardiomyopathy and renal colic have also been reported.

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA-MYOPATHY-EMACIATION SYNDROME Is also known as mitochondrial dna maintenance syndrome due to mgme1 deficiency|peo-myopathy-emaciation syndrome|mtdna maintenance syndrome due to mgme1 deficiency

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Muscle weakness
  • Ptosis
  • Skeletal muscle atrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA-MYOPATHY-EMACIATION SYNDROME

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

Symptoms // Phenotype % cases
Amenorrhea Common - Between 50% and 80% cases
Hyporeflexia Common - Between 50% and 80% cases
Peripheral neuropathy Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Dysarthria Sensorineural hearing impairment Cognitive impairment Hypogonadism Ataxia High palate Polyneuropathy Delayed puberty Hypergonadotropic hypogonadism Decreased serum testosterone level Ptosis Seizures Diabetes mellitus Cerebellar atrophy Spasticity Diarrhea Bilateral sensorineural hearing impairment Skeletal muscle atrophy Pes cavus Hypothyroidism Scoliosis Gonadal dysgenesis Infertility Frontal bossing Sensory neuropathy Intellectual disability, mild Gait disturbance Ophthalmoplegia Nystagmus Short stature Muscle weakness Mental deterioration

Rare Symptoms - Less than 30% cases

Hypogonadotrophic hypogonadism Decreased serum estradiol Hypoplasia of the uterus Gait ataxia Tremor Dysphonia Decreased testicular size Sensorimotor neuropathy Hypotrichosis Camptodactyly Streak ovary Growth delay Facial palsy Amelogenesis imperfecta Severe sensorineural hearing impairment Generalized hypotonia Peripheral axonal neuropathy Sleep apnea Motor delay Short neck Cerebellar hypoplasia Dysmetria Areflexia Arrhythmia Global developmental delay Ichthyosis Dyspnea Delayed skeletal maturation Dysphagia Hydrocephalus Respiratory insufficiency Kyphosis Respiratory failure Failure to thrive Abnormal eyebrow morphology Cerebral calcification Increased circulating gonadotropin level Micropenis Vomiting Muscle stiffness Peripheral demyelination Gliosis Leukoencephalopathy Encephalitis Premature ovarian insufficiency Emotional lability Secondary amenorrhea Unsteady gait Abnormality of the cerebral white matter Distal muscle weakness Developmental regression Dementia Leukodystrophy Abnormality of metabolism/homeostasis Hypertelorism Macrocephaly Fever Delayed speech and language development Alopecia Muscular hypotonia Progressive peripheral neuropathy Abnormality of the dentition Male hypogonadism Chronic kidney disease Sensory axonal neuropathy Elevated circulating luteinizing hormone level Increased serum pyruvate Exercise intolerance Positive Romberg sign External ophthalmoplegia Abnormal facial shape Easy fatigability Talipes equinovarus Ragged-red muscle fibers Titubation Rod-cone dystrophy Osteoporosis Abnormality of the nervous system Abnormality of mitochondrial metabolism Hyperkinesis Bilateral ptosis Hammertoe Spastic diplegia Internuclear ophthalmoplegia Limited extraocular movements Retinal atrophy Respiratory insufficiency due to muscle weakness Sensory ataxic neuropathy Sensory impairment Increased serum lactate Distal amyotrophy Abnormal peripheral myelination Gonadal dysgenesis, male Blind vagina Abnormality of peripheral nerves Minifascicle formation Visual impairment Proximal amyotrophy Progressive external ophthalmoplegia Visual loss Spinal rigidity Generalized amyotrophy Photophobia Spastic paraplegia Paraplegia Retinal dystrophy Gonadal dysgenesis with female appearance, male Camptodactyly of finger Distal sensory impairment Gonadoblastoma Abnormal vagina morphology Abnormality of peripheral nerve conduction Nasal speech Spinocerebellar atrophy Abnormal upper motor neuron morphology Distal sensory loss of all modalities Scanning speech Abnormality of female external genitalia Chorioretinal atrophy Testicular dysgenesis Intention tremor Progressive visual loss Chorioretinal dystrophy Acanthosis nigricans Round face Hypotension Hyperpigmented nevi Microcoria Diffuse demyelination of the cerebral white matter Abnormal autonomic nervous system physiology Clonus Diplopia Chorea Self-injurious behavior Microcephaly Sudden cardiac death Tetraplegia Sleep disturbance Abnormality of eye movement Cardiomyopathy Congestive heart failure Precocious puberty Oral-pharyngeal dysphagia Neurological speech impairment Pseudobulbar signs Aqueductal stenosis Bulbar signs Hypothermia Megalencephaly Large face Poor coordination Progressive macrocephaly Dysphasia Increased CSF protein Drowsiness Atrophy/Degeneration affecting the brainstem Muscle fibrillation Recurrent singultus Progressive spasticity Bowel incontinence Nausea and vomiting Cough Hypoplasia of dental enamel Abnormal toenail morphology Abnormal hair quantity Generalized muscle weakness Leukonychia Thin eyebrow Pili torti High anterior hairline Abnormal eyelid morphology Muscle flaccidity Taurodontia External genital hypoplasia Macular dystrophy Large hands Hypersomnia Abnormality of the fingernails Abnormality of dental enamel Abnormal nasolacrimal system morphology Abnormality of nail color Renal insufficiency Osteopenia Recurrent infections Hyperlordosis Elevated serum creatine phosphokinase EEG abnormality Proximal muscle weakness Dilated cardiomyopathy Limb muscle weakness Weight loss Feeding difficulties Hyperhidrosis Agenesis of corpus callosum Constipation Depressivity Stage 5 chronic kidney disease Nausea Hypertension Abnormal pyramidal sign Polycythemia Decreased number of peripheral myelinated nerve fibers Flat occiput Abnormal spermatogenesis Abnormal T-wave Anodontia Heart block Insulin-resistant diabetes mellitus Autoimmune thrombocytopenia Aplasia/Hypoplasia of the eyebrow Sparse eyebrow Decreased serum insulin-like growth factor 1 Hyperlipidemia Purpura Hallucinations Choreoathetosis Sparse scalp hair Myocardial infarction Fine hair Increased thyroid-stimulating hormone level Progressive extrapyramidal movement disorder Abnormality of extrapyramidal motor function Anteverted nares Abnormal heart morphology Patent ductus arteriosus Clinodactyly Hernia Splenomegaly Edema Atrial septal defect Ventriculomegaly Hypoplasia of the fallopian tube Ventricular septal defect Wide nasal bridge Brachydactyly Hepatomegaly Epicanthus Flexion contracture Anemia Progressive alopecia Psychosis Dehydration Severe short stature Progressive neurologic deterioration Progressive encephalopathy Axonal degeneration Personality changes CNS hypomyelination Spastic paraparesis Paraparesis Spastic gait Hemiparesis Delusions Memory impairment Progressive cerebellar ataxia Coma Lethargy Encephalopathy Cerebral atrophy Blindness Optic atrophy Hyperventilation CNS demyelination Dental malocclusion High forehead Prominent nose Triangular face Abnormality of movement Arthrogryposis multiplex congenita Prominent nasal bridge Sparse hair Protruding ear Babinski sign Cerebral hypomyelination Dystonia Downslanted palpebral fissures Decreased circulating progesterone Cessation of head growth Spastic hemiparesis Rapid neurologic deterioration Diffuse leukoencephalopathy Primary gonadal insufficiency Pneumonia Posteriorly rotated ears Steppage gait Exocrine pancreatic insufficiency Skin nodule Nasal obstruction Recurrent pharyngitis Communicating hydrocephalus Varicose veins Aspiration pneumonia Enlarged kidney Episodic fever Reticulocytopenia Scleroderma Lipoatrophy Microcytic anemia Elevated erythrocyte sedimentation rate Increased antibody level in blood Hallux valgus Leukocytosis Histiocytosis Chronic rhinitis Stridor Snoring Reduced tendon reflexes Seborrheic keratosis Retroperitoneal fibrosis Upper eyelid edema Bilateral camptodactyly Cervical lymphadenopathy Stiff skin Episcleritis Abnormality of cardiovascular system physiology Panniculitis Facial telangiectasia Myelofibrosis Generalized lymphadenopathy Corneal arcus Hyperplasia of the maxilla Broad finger Pancreatic hypoplasia Hyperglycemia Psoriasiform dermatitis Hyperkeratosis Pectus carinatum Full cheeks Recurrent fractures Flat face Cleft upper lip Lymphadenopathy Abnormality of the foot Malabsorption Retinopathy Wide intermamillary distance Abnormal cardiac septum morphology Apnea Abnormality of the kidney Low-set, posteriorly rotated ears Conductive hearing impairment Hepatosplenomegaly Pes planus Proptosis Growth hormone deficiency Overgrowth Lipodystrophy Hyperpigmentation of the skin Azoospermia Plagiocephaly Osteolysis Type I diabetes mellitus Elbow flexion contracture Aspiration Gynecomastia Gingival overgrowth Mitral valve prolapse Telangiectasia Bronchiectasis Hypertrichosis Hypertriglyceridemia Blue sclerae Epistaxis Epidermal acanthosis Cardiomegaly Spinal deformities


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