Muscle weakness, and Amenorrhea

Diseases related with Muscle weakness and Amenorrhea

In the following list you will find some of the most common rare diseases related to Muscle weakness and Amenorrhea that can help you solving undiagnosed cases.

Top matches:

ISOLATED THYROTROPIN-RELEASING HORMONE DEFICIENCY Is also known as hypothalamic hypothyroidism|isolated prothyroliberin deficiency|isolated protirelin deficiency|isolated trf deficiency|isolated tsh-releasing factor deficiency|trh deficiency|isolated thyroliberin deficiency|isolated thyrotropin-releasing factor deficienc

Related symptoms:

  • Intellectual disability
  • Short stature
  • Muscle weakness
  • Delayed skeletal maturation
  • Constipation


SOURCES: ORPHANET OMIM MENDELIAN

More info about ISOLATED THYROTROPIN-RELEASING HORMONE DEFICIENCY

Premature ovarian failure is clearly a heterogeneous disorder. The terms 'hypergonadotropic ovarian failure' and 'hypergonadotropic ovarian dysgenesis' (see ODG1, {233300}) have been used to indicate a group of disorders in which amenorrhea associated with elevated levels of serum gonadotropins occurs long before the age of 40 years (Coulam, 1982). Cytogenetic studies of X-chromosome aberrations have suggested that it is mainly the long arm of the X chromosome that is involved in defects of ovulation (Bione et al., 1998). ReviewsRossetti et al. (2017) reviewed the genetics of primary ovarian insufficiency, noting that the significance of this disorder was increasing because of the increasing number of women desiring conception beyond 30 years of age, at which point POF prevalence is more than 1%. Genetic Heterogeneity of Premature Ovarian FailureMutations in genes identified within a region defined as POF2 (Xq13.3-q21.1) have been found to cause other forms of POF: POF2A (OMIM ) by mutation in the DIAPH2 gene (OMIM ) and POF2B (OMIM ) by mutation in the POF1B gene (OMIM ). See also POF3 (OMIM ), caused by mutation in the FOXL2 gene (OMIM ) on chromosome 3q22; POF4 (see {300510}), caused by mutation in the BMP15 gene (OMIM ) on chromosome Xp11; POF5 (OMIM ), caused by mutation in the NOBOX gene (OMIM ) on chromosome 7q35; POF6 (OMIM ), caused by mutation in the FIGLA gene (OMIM ) on chromosome 2p13; POF7 (OMIM ), caused by mutation in the NR5A1 gene (OMIM ) on chromosome 9q33; POF8 (OMIM ), caused by mutation in the STAG3 gene (OMIM ) on chromosome 7q22; POF9 (OMIM ), caused by mutation in the HFM1 gene (OMIM ) on chromosome 1p22; POF10 (OMIM ), caused by mutation in the MCM8 gene (OMIM ) on chromosome 20p12; POF11 (OMIM ), caused by mutation in the ERCC6 gene (OMIM ) on chromosome 10q11; POF12 (OMIM ), caused by mutation in the SYCE1 gene (OMIM ) on chromosome 10q26; POF13 (OMIM ), caused by mutation in the MSH5 gene (OMIM ) on chromosome 6p21; and POF14 (OMIM ), caused by mutation in the GDF9 gene (OMIM ) on chromosome 5q31.In 100 patients with primary or secondary amenorrhea before the age of 40 years, who also exhibited elevated FSH, Bouilly et al. (2016) screened for variants in 19 POF-associated or candidate genes. The authors noted that 8 of the 19 mutation-positive patients carried a genetic defect in more than 1 gene, and that patients with 2 or more variants tended to have a younger age of onset and were more likely have primary rather than secondary amenorrhea. Bouilly et al. (2016) suggested that digenicity and possibly oligogenicity may contribute to POF, noting that this might account for the phenotypic variability and incomplete penetrance that have been observed in patients with POF.

PREMATURE OVARIAN FAILURE 1; POF1 Is also known as ovarian failure, premature|pof|primary ovarian insufficiency, fragile x-associated|pofx|hypergonadotropic ovarian failure, x-linked|premature ovarian failure, x-linked|fragile x premature ovarian failure

Related symptoms:

  • Intellectual disability
  • High palate
  • Abnormality of metabolism/homeostasis
  • Sparse hair
  • Autoimmunity


SOURCES: ORPHANET OMIM MENDELIAN

More info about PREMATURE OVARIAN FAILURE 1; POF1

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

Other less relevant matches:

ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY Is also known as adrenal hyperplasia v|17-alpha-hydroxylase deficiency

Related symptoms:

  • Muscle weakness
  • Cryptorchidism
  • Hypertension
  • Myopathy
  • Headache


SOURCES: OMIM ORPHANET MENDELIAN

More info about ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY

Hemochromatosis type 2 (juvenile) is the early-onset and most severe form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin.

HEMOCHROMATOSIS TYPE 2 Is also known as juvenile hemochromatosis

Related symptoms:

  • Muscle weakness
  • Pain
  • Hypertension
  • Hepatomegaly
  • Cardiomyopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEMOCHROMATOSIS TYPE 2

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

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

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

ACTH-independent macronodular adrenal hyperplasia (AIMAH) is a rare cause of Cushing syndrome (CS; see this term) characterized by nodular enlargement of both adrenal glands (multiple nodules above 1 cm in diameter) that produce excess cortisol and features of adrenocorticotropic hormone (ACTH) independent CS (see this term).

CUSHING SYNDROME DUE TO MACRONODULAR ADRENAL HYPERPLASIA Is also known as cushing disease, pituitary|primary bilateral macronodular adrenal hyperplasia

Related symptoms:

  • Neoplasm
  • Failure to thrive
  • Muscle weakness
  • Hypertension
  • Skeletal muscle atrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about CUSHING SYNDROME DUE TO MACRONODULAR ADRENAL HYPERPLASIA

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 Muscle weakness and Amenorrhea

Symptoms // Phenotype % cases
Primary amenorrhea Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Secondary amenorrhea Uncommon - Between 30% and 50% cases
Diabetes mellitus Uncommon - Between 30% and 50% cases
Hypogonadism Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Muscle weakness and Amenorrhea. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Hypertension Skeletal muscle atrophy Arrhythmia Delayed skeletal maturation

Rare Symptoms - Less than 30% cases

Peripheral neuropathy Seizures Increased circulating cortisol level Short stature Ptosis Congestive heart failure Cardiomyopathy Ataxia Muscular hypotonia Hypokalemia Emotional lability Dysarthria Cryptorchidism Round face Alkalosis Micropenis Generalized muscle weakness Gait disturbance Gynecomastia Diarrhea Hyporeflexia Osteoporosis Pes cavus Hypogonadotrophic hypogonadism Abnormality of metabolism/homeostasis Sensorineural hearing impairment Dilated cardiomyopathy Lethargy Kyphosis Infertility Distal muscle weakness Gonadal dysgenesis Delayed puberty Obesity Increased circulating gonadotropin level Premature ovarian insufficiency Ichthyosis Pili torti External genital hypoplasia Macular dystrophy Amelogenesis imperfecta Abnormal nasolacrimal system morphology Muscle flaccidity Abnormal eyebrow morphology Thin eyebrow Taurodontia Abnormal eyelid morphology Abnormal toenail morphology High anterior hairline Abnormal hair quantity Leukonychia Nasal speech Bilateral sensorineural hearing impairment Large hands Hyposmia Abnormality of cardiovascular system morphology Skeletal dysplasia Pes planus Paraplegia Recurrent fractures Renal agenesis Decreased testicular size Hypoplasia of penis Reduced bone mineral density Anosmia Reduced number of teeth Abnormality of the voice Abnormality of color vision Decreased fertility Anterior hypopituitarism Acanthosis nigricans Camptodactyly of finger Abnormality of the fingernails Abnormality of dental enamel Hypoplasia of dental enamel Neoplasm Cerebral calcification Sensory neuropathy Abnormality of the dentition Abnormality of female internal genitalia Hearing impairment Hypothalamic gonadotropin-releasing hormone deficiency Erectile abnormalities Dyspareunia Bimanual synkinesia Breast hypoplasia Abnormality of nail color Hirsutism Failure to thrive Dyspnea Dorsocervical fat pad Macronodular adrenal hyperplasia Abnormal fear/anxiety-related behavior Psychotic mentation Microcephaly Dysphagia Respiratory insufficiency Cerebellar atrophy Renal insufficiency Recurrent infections Elevated serum creatine phosphokinase Cerebellar hypoplasia Respiratory failure Proximal muscle weakness Adrenocorticotropic hormone excess Facial palsy Ophthalmoplegia Limb muscle weakness Stage 5 chronic kidney disease Spinal rigidity Nausea Generalized amyotrophy Hypergonadotropic hypogonadism Exercise intolerance External ophthalmoplegia Respiratory insufficiency due to muscle weakness Ragged-red muscle fibers Easy fatigability Dysphonia Moon facies Menometrorrhagia Fatigue Truncal obesity Edema Depressivity Alopecia Osteopenia Bruising susceptibility Chronic kidney disease Thin skin Proximal amyotrophy Nephrolithiasis Increased body weight Generalized hirsutism Acne Glucose intolerance Hyperparathyroidism Progressive external ophthalmoplegia Striae distensae Oligomenorrhea Meningioma Pituitary adenoma Vertebral compression fractures Ecchymosis Poor wound healing Abdominal obesity Biconcave vertebral bodies Facial erythema Increased circulating ACTH level Abnormality of the menstrual cycle Peripheral edema Mood changes Tremor Leukoencephalopathy Visual impairment Bifid scrotum Abnormal peripheral myelination Gonadal dysgenesis, male Blind vagina Abnormality of peripheral nerves Minifascicle formation Myopathy Headache Hypospadias Feeding difficulties in infancy Ambiguous genitalia Accelerated skeletal maturation Failure to thrive in infancy Male pseudohermaphroditism Sensory ataxic neuropathy Hyperaldosteronism Adrenal hyperplasia Metabolic alkalosis Perineal hypospadias Decreased circulating renin level Congenital adrenal hyperplasia Female pseudohermaphroditism Hypokalemic alkalosis Adrenogenital syndrome Pain Hepatomegaly Splenomegaly Abdominal pain Gonadal dysgenesis with female appearance, male Distal sensory loss of all modalities Arthritis Hypergalactosemia Constipation Hypothyroidism Dry skin Hoarse voice Hypothalamic hypothyroidism High palate Sparse hair Autoimmunity Webbed neck Fatigable weakness Primary adrenal insufficiency Menstrual irregularities Polyneuropathy Testicular dysgenesis Sensorimotor neuropathy Reduced tendon reflexes Steppage gait Hypoplasia of the uterus Decreased number of peripheral myelinated nerve fibers Male hypogonadism Gonadoblastoma Decreased serum testosterone level Decreased serum estradiol Abnormal vagina morphology Abnormality of peripheral nerve conduction Abnormality of female external genitalia Streak ovary Elevated hepatic transaminase Abnormality of the liver Cleft palate Encephalitis Progressive cerebellar ataxia Gliosis Memory impairment Peripheral demyelination Hemiparesis Progressive neurologic deterioration Spastic gait Leukodystrophy Muscle stiffness Paraparesis Spastic paraparesis CNS hypomyelination Personality changes Unsteady gait Axonal degeneration Progressive encephalopathy Hyperventilation Delusions CNS demyelination Cerebral hypomyelination Primary gonadal insufficiency Diffuse leukoencephalopathy Rapid neurologic deterioration Spastic hemiparesis Cessation of head growth Decreased circulating progesterone Nystagmus Coma Abnormality of the cerebral white matter Cirrhosis Abnormality of endocrine pancreas physiology Hyperpigmentation of the skin Azoospermia Portal hypertension Impotence Arthropathy Generalized hyperpigmentation Increased serum ferritin Congenital hepatic fibrosis Increased serum iron Abnormality of iron homeostasis Abnormality of the anterior pituitary Elevated transferrin saturation Generalized hypotonia Developmental regression Spasticity Cognitive impairment Delayed speech and language development Hyperreflexia Fever Macrocephaly Optic atrophy Blindness Vomiting Cerebral atrophy Encephalopathy Dementia Mental deterioration Spinal deformities


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