Muscle weakness, and Primary amenorrhea

Diseases related with Muscle weakness and Primary amenorrhea

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

Top 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

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

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

Other less relevant matches:

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

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

MITOCHONDRIAL MYOPATHY-CEREBELLAR ATAXIA-PIGMENTARY RETINOPATHY SYNDROME Is also known as mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about MITOCHONDRIAL MYOPATHY-CEREBELLAR ATAXIA-PIGMENTARY RETINOPATHY SYNDROME

Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance.

CONGENITAL CATARACTS-FACIAL DYSMORPHISM-NEUROPATHY SYNDROME Is also known as ccfdn|cataract, congenital, with facial dysmorphism and neuropathy

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL CATARACTS-FACIAL DYSMORPHISM-NEUROPATHY SYNDROME

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

Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.

NIJMEGEN BREAKAGE SYNDROME Is also known as microcephaly-immunodeficiency-lymphoreticuloma syndrome|ataxia-telangiectasia variant v1|microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies|at-v1|berlin breakage syndrome|ataxia-telangiectasia, variant 1|seemanova sy

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Ataxia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NIJMEGEN BREAKAGE SYNDROME

Top 5 symptoms//phenotypes associated to Muscle weakness and Primary amenorrhea

Symptoms // Phenotype % cases
Amenorrhea Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Pes cavus Uncommon - Between 30% and 50% cases
Hyporeflexia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Hypogonadism Peripheral neuropathy Hearing impairment Skeletal muscle atrophy Short stature Secondary amenorrhea Tremor Sensory neuropathy Seizures Elevated serum creatine phosphokinase Hypergonadotropic hypogonadism Respiratory insufficiency Cognitive impairment Generalized hypotonia Arrhythmia Dysarthria Gait disturbance Diarrhea Delayed skeletal maturation Ptosis Sensorineural hearing impairment Premature ovarian insufficiency Myopathy Proximal muscle weakness Distal muscle weakness Myalgia Global developmental delay Micrognathia

Rare Symptoms - Less than 30% cases

Acute rhabdomyolysis Frequent falls Anxiety Retinopathy Abnormality of the dentition Dysmetria Rhabdomyolysis Small hand Pigmentary retinopathy Intention tremor Hypogonadotrophic hypogonadism Intrauterine growth retardation Decreased testicular size Gait ataxia Congenital cataract Ichthyosis Increased variability in muscle fiber diameter Hyperthyroidism Visual impairment Mitochondrial myopathy Cleft palate Osteoporosis Nystagmus Axonal degeneration Kyphoscoliosis Intellectual disability, mild Depressivity Respiratory failure Malar prominence Easy fatigability Ragged-red muscle fibers External ophthalmoplegia Exercise intolerance Progressive external ophthalmoplegia Limb muscle weakness Ophthalmoplegia Dilated cardiomyopathy Facial palsy Peripheral demyelination Cerebellar hypoplasia Dysphonia Scoliosis Growth delay Kyphosis Cerebellar atrophy Dysphagia Microcephaly Abnormal hair quantity Abnormal eyelid morphology Motor delay Camptodactyly of finger Diabetes mellitus CNS hypomyelination Cataract Lethargy Sensorimotor neuropathy Decreased serum estradiol Fever Coma Micropenis Abnormality of peripheral nerve conduction Cerebral atrophy Gynecomastia Delayed speech and language development Polyneuropathy Cryptorchidism Muscular hypotonia Gonadal dysgenesis Generalized muscle weakness Mental deterioration Hypospadias Peripheral hypomyelination Attention deficit hyperactivity disorder Freckling Autoimmune hemolytic anemia Upper limb postural tremor Neuroblastoma Anal stenosis Acute lymphoblastic leukemia Recurrent myoglobinuria Abnormality of the musculature Fatigue Long nose Constipation Cafe-au-lait spot Sinusitis Abnormality of the hair Acidosis Lymphopenia Hypothyroidism Low anterior hairline Hypertonia Failure to thrive Recurrent pneumonia Cachexia Deep philtrum Edema Abnormality of neuronal migration Combined immunodeficiency Non-midline cleft lip Hearing abnormality Abnormality of the cervical spine Medulloblastoma Acute leukemia Abnormal pyramidal sign Anorectal anomaly Interphalangeal joint contracture of finger Chorea Microcornea Paresthesia Penoscrotal hypospadias Dysgammaglobulinemia Hypoglycemia Split hand Cerebral cortical atrophy Mastoiditis Babinski sign Microphthalmia Ventriculomegaly Talipes equinovarus Abnormality of the skeletal system Recurrent infection of the gastrointestinal tract T-cell lymphoma Recurrent bronchitis Genu recurvatum B-cell lymphoma Motor polyneuropathy Recurrent sinopulmonary infections Rigidity Abnormality of chromosome stability Motor axonal neuropathy Glioma Malignant hyperthermia Long eyelashes Rhabdomyosarcoma Myoglobinuria Decrease in T cell count B lymphocytopenia Axonal loss Pollakisuria Decreased motor nerve conduction velocity Postural tremor Gastroesophageal reflux Abnormality of eye movement Elevated hepatic transaminase Muscle fiber necrosis Nocturia Impaired distal vibration sensation Leukemia Anal atresia Cleft upper lip Hemolytic anemia Cytochrome C oxidase-negative muscle fibers Neurodegeneration Multiple mitochondrial DNA deletions Gastroparesis Cogwheel rigidity Parkinsonism with favorable response to dopaminergic medication Testicular atrophy Abnormality of the mitochondrion Lymphoma Prominent nose Impaired distal proprioception Subsarcolemmal accumulations of abnormally shaped mitochondria Otitis media Prominent nasal bridge Abnormality of the nervous system Hydronephrosis Retrognathia Macrotia Hyperactivity Upslanted palpebral fissure Recurrent respiratory infections Pneumonia Progressive ophthalmoplegia Small for gestational age Thrombocytopenia Immunodeficiency Short neck Depressed nasal bridge Neoplasm Focal white matter lesions Quadriceps muscle weakness Absent Achilles reflex Reduced ejection fraction Telangiectasia Bradykinesia EMG: myopathic abnormalities Cerebral visual impairment Progressive muscle weakness Left ventricular hypertrophy Palpitations Atrial fibrillation Abnormality of extrapyramidal motor function Increased serum lactate Goiter Migraine Parkinsonism Bronchiectasis Muscle cramps Lactic acidosis Peripheral axonal neuropathy Intellectual disability, moderate Abnormality of the liver Ventricular arrhythmia Chronic diarrhea Shoulder girdle muscle weakness Difficulty climbing stairs Hypomimic face Facial diplegia Ketosis Bipolar affective disorder Exertional dyspnea Resting tremor Hypokinesia Glucose intolerance Recurrent urinary tract infections Sensory axonal neuropathy Ophthalmoparesis Abnormality of mitochondrial metabolism Convex nasal ridge Sloping forehead Cutaneous photosensitivity Choanal atresia Abnormality of the face Skeletal myopathy Spinal rigidity Abnormal facial shape Dementia Hemiparesis Memory impairment Gliosis Progressive cerebellar ataxia Unsteady gait Abnormality of the cerebral white matter Developmental regression Encephalopathy Spastic gait Vomiting Blindness Optic atrophy Macrocephaly Hyperreflexia Spasticity Adrenogenital syndrome Progressive neurologic deterioration Leukodystrophy Female pseudohermaphroditism Delusions Cessation of head growth Spastic hemiparesis Rapid neurologic deterioration Diffuse leukoencephalopathy Primary gonadal insufficiency Cerebral hypomyelination CNS demyelination Hyperventilation Muscle stiffness Progressive encephalopathy Emotional lability Personality changes Encephalitis Leukoencephalopathy Spastic paraparesis Paraparesis Hypokalemic alkalosis Congenital adrenal hyperplasia Abnormality of cardiovascular system morphology Decreased serum testosterone level Gonadal dysgenesis with female appearance, male Sensory ataxic neuropathy Distal sensory loss of all modalities Testicular dysgenesis Streak ovary Abnormality of female external genitalia Abnormal vagina morphology Gonadoblastoma Gonadal dysgenesis, male Male hypogonadism Increased circulating gonadotropin level Decreased number of peripheral myelinated nerve fibers Hypoplasia of the uterus Steppage gait Reduced tendon reflexes Infertility Abnormal peripheral myelination Blind vagina Decreased circulating renin level Bifid scrotum Perineal hypospadias Metabolic alkalosis Alkalosis Adrenal hyperplasia Hyperaldosteronism Male pseudohermaphroditism Increased circulating cortisol level Failure to thrive in infancy Abnormality of peripheral nerves Hypokalemia Accelerated skeletal maturation Ambiguous genitalia Feeding difficulties in infancy Abnormality of metabolism/homeostasis Headache Hypertension Minifascicle formation Decreased circulating progesterone Obesity Strabismus Chronic kidney disease Mandibular prognathia Pectus excavatum High palate Spinal deformities Proximal amyotrophy Generalized amyotrophy Nasal speech Respiratory insufficiency due to muscle weakness Pallor Nausea Stage 5 chronic kidney disease Dyspnea Recurrent infections Renal insufficiency Congestive heart failure Cardiomyopathy Difficulty walking Long face Muscle flaccidity Gowers sign Enlarged interhemispheric fissure Speech articulation difficulties Thick hair Prolactin excess Poor coordination Multiple lipomas Myopathic facies Dysdiadochokinesis Falls Schizophrenia Truncal ataxia Limb ataxia Sensory impairment Inability to walk Distal sensory impairment Distal amyotrophy Abnormality of nail color Abnormal nasolacrimal system morphology Skeletal dysplasia Reduced number of teeth Breast hypoplasia Abnormality of female internal genitalia Anterior hypopituitarism Hyposmia Decreased fertility Abnormality of color vision Abnormality of the voice Anosmia Dyspareunia Reduced bone mineral density Hypoplasia of penis Renal agenesis Recurrent fractures Paraplegia Delayed puberty Pes planus Bimanual synkinesia Erectile abnormalities Leukonychia External genital hypoplasia Thin eyebrow Pili torti High anterior hairline Abnormal toenail morphology Taurodontia Abnormal eyebrow morphology Amelogenesis imperfecta Macular dystrophy Hypothalamic gonadotropin-releasing hormone deficiency Large hands Acanthosis nigricans Abnormality of the fingernails Abnormality of dental enamel Hypoplasia of dental enamel Bilateral sensorineural hearing impairment Cerebral calcification Round face Progressive vitiligo


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