Myopathy, and Amenorrhea

Diseases related with Myopathy and Amenorrhea

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


Top matches:

Medium match ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY


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

Medium match PPARG-RELATED FAMILIAL PARTIAL LIPODYSTROPHY


This type can be caused by mutation in the gene encoding PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR GAMMA.

PPARG-RELATED FAMILIAL PARTIAL LIPODYSTROPHY Is also known as familial partial lipodystrophy type 3|fpld3|pparg-related fpld|lipodystrophy, familial partial, associated with pparg mutations

Related symptoms:

  • Hypertension
  • Hepatomegaly
  • Myopathy
  • Congestive heart failure
  • Splenomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about PPARG-RELATED FAMILIAL PARTIAL LIPODYSTROPHY

Medium match PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA-MYOPATHY-EMACIATION 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

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Other less relevant matches:

Medium match AUTOSOMAL SEMI-DOMINANT SEVERE LIPODYSTROPHIC LAMINOPATHY


Related symptoms:

  • Micrognathia
  • Hepatomegaly
  • Myopathy
  • Congestive heart failure
  • Splenomegaly


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL SEMI-DOMINANT SEVERE LIPODYSTROPHIC LAMINOPATHY

Medium match MITOCHONDRIAL MYOPATHY-CEREBELLAR ATAXIA-PIGMENTARY RETINOPATHY 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

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 FAMILIAL PARTIAL LIPODYSTROPHY, DUNNIGAN TYPE


Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy (see this term) characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis.

FAMILIAL PARTIAL LIPODYSTROPHY, DUNNIGAN TYPE Is also known as fpl2|lipoatrophic diabetes|lipodystrophy, reverse partial|fpld2|familial partial lipodystrophy type 2|lipodystrophy, familial, of limbs and lower trunk|dunnigan syndrome|lipodystrophy, familial partial, dunnigan type

Related symptoms:

  • Short stature
  • Micrognathia
  • Cataract
  • Hypertension
  • Hepatomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL PARTIAL LIPODYSTROPHY, DUNNIGAN TYPE

Medium match LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4


Congenital generalized lipodystrophy type 4 combines the phenotype of classic Berardinelli-Seip lipodystrophy (OMIM ) with muscular dystrophy and cardiac conduction anomalies (Hayashi et al., 2009).For a general description and a discussion of genetic heterogeneity of congenital generalized lipodystrophy, see CGL1 (OMIM ).

LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4 Is also known as berardinelli-seip congenital lipodystrophy, type 4, with muscular dystrophy|lipodystrophy, berardinelli-seip congenital, type 4, with muscular dystrophy

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4

Medium match BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY


Berardinelli-Seip congenital lipodystrophy (BSCL) is characterized by the association of lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. BSCL belongs to the group of extreme insulin resistance syndromes, which also includes leprechaunism, Rabson-Mendenhall syndrome, acquired generalized lipodystrophy, and types A and B insulin resistance (see these terms).

BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY Is also known as lipoatrophic diabetes|generalized congenital lipodystrophy|gcl|brunzell syndrome|bscl|beradinelli-seip syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET MENDELIAN

More info about BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY

Medium 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

Top 5 symptoms//phenotypes associated to Myopathy and Amenorrhea

Symptoms // Phenotype % cases
Myalgia Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Diabetes mellitus Common - Between 50% and 80% cases
Secondary amenorrhea Common - Between 50% and 80% cases
Congestive heart failure Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Atherosclerosis Skeletal muscle hypertrophy Lipodystrophy Polycystic ovaries Hepatomegaly Pancreatitis Acanthosis nigricans Splenomegaly Insulin resistance Hypertriglyceridemia Hepatic steatosis Lipoatrophy Dysmenorrhea Loss of subcutaneous adipose tissue in limbs Elevated serum creatine phosphokinase Intellectual disability Primary amenorrhea Arrhythmia Prominent superficial veins Cardiomyopathy Exercise intolerance Thin skin Proximal muscle weakness Hyporeflexia Skeletal muscle atrophy Dysphagia Generalized hirsutism Global developmental delay Abnormality of skeletal muscle fiber size Hyperinsulinemia Coronary artery atherosclerosis Reduced subcutaneous adipose tissue Epidermal acanthosis Short stature Hirsutism Hypertrophic cardiomyopathy Generalized muscle weakness Hypertension Cataract Ventricular hypertrophy Ptosis Respiratory insufficiency Recurrent infections Rigidity Hypogonadism Hypothyroidism Ophthalmoplegia Limb muscle weakness Peripheral neuropathy External ophthalmoplegia Dysphonia Ragged-red muscle fibers Bradycardia Mitochondrial myopathy Increased variability in muscle fiber diameter Spinal rigidity Progressive external ophthalmoplegia Micrognathia Ventricular arrhythmia Delayed skeletal maturation Depressivity Tremor Ataxia Scoliosis Hearing impairment Generalized hypotonia Accelerated skeletal maturation Xanthomatosis Decreased HDL cholesterol concentration Osteoporosis Failure to thrive Myocardial infarction Atrial fibrillation Elevated hepatic transaminase Aplasia/Hypoplasia of the skin Generalized lipodystrophy Congenital generalized lipodystrophy Palpitations

Rare Symptoms - Less than 30% cases


Frequent falls Constipation Pyloric stenosis Subsarcolemmal accumulations of abnormally shaped mitochondria Flexion contracture Hyperthyroidism Osteopenia Sensorineural hearing impairment Hyperlordosis Pigmentary retinopathy Anxiety Retinopathy Distal muscle weakness Mandibular prognathia Gait ataxia Pes cavus Adipose tissue loss Pectus excavatum Growth delay Glomerulopathy Abnormality of the skeletal system Hyperlipidemia Growth hormone deficiency Cognitive impairment Multiple mitochondrial DNA deletions Sensory neuropathy Left ventricular hypertrophy Muscle stiffness EMG: myopathic abnormalities Bradykinesia Prominent supraorbital ridges Increased serum lactate Premature ovarian insufficiency IgA deficiency Progressive proximal muscle weakness Migraine Parkinsonism Dilatation Exercise-induced myalgia Progressive muscle weakness Prolonged QTc interval Atlantoaxial dislocation Ophthalmoparesis Ventricular fibrillation Sensory axonal neuropathy Fatigue Abnormal levels of creatine kinase in blood Gait disturbance Dysarthria Resting tremor Bipolar affective disorder Cytochrome C oxidase-negative muscle fibers Visual impairment Muscle cramps Seizures Increased facial adipose tissue Oligomenorrhea Round face Infertility Failure to thrive in infancy Cirrhosis Renal insufficiency Hyperuricemia Insulin-resistant diabetes mellitus Maternal diabetes Hepatosplenomegaly Hyperlipoproteinemia Easy fatigability Hypergonadotropic hypogonadism Eclampsia Dilated cardiomyopathy Facial palsy Cerebellar atrophy Cerebellar hypoplasia Abnormality of the nail Hyperglycemia Increased intraabdominal fat Osteolytic defects of the phalanges of the hand Advanced eruption of teeth Increased adipose tissue around the neck Abnormality of metabolism/homeostasis Protuberant abdomen Feeding difficulties in infancy Supraventricular tachycardia Micropenis Metabolic alkalosis Ileus Hypospadias Perineal hypospadias Sudden cardiac death Vomiting Ambiguous genitalia Fasting hyperinsulinemia Headache Polymorphic ventricular tachycardia Atlantoaxial instability Abnormality of upper lip Talipes equinovarus Feeding difficulties Prominent umbilicus Generalized muscle hypertrophy Alkalosis Mildly elevated creatine phosphokinase Prolonged QT interval Joint stiffness Male pseudohermaphroditism Increased circulating cortisol level Spastic paraplegia Bifid scrotum Long eyelashes Sparse and thin eyebrow Muscular dystrophy Pointed chin Recurrent bacterial infections Ventricular tachycardia Tachycardia Protruding ear Delayed gross motor development Postnatal growth retardation Reduced bone mineral density Hypokalemia Hyperaldosteronism Gynecomastia Neonatal hypotonia Cutis marmorata Adrenal hyperplasia Cervical spine instability Abnormality of the foot Muscle mounding Reduced ejection fraction Goiter Abnormality of mitochondrial metabolism Glucose intolerance Difficulty climbing stairs Hypokinesia Exertional dyspnea Rhabdomyolysis Gonadal dysgenesis Ketosis Facial diplegia Hypomimic face Shoulder girdle muscle weakness Absent Achilles reflex Cerebral visual impairment Skeletal myopathy Abnormality of the mitochondrion Testicular atrophy Parkinsonism with favorable response to dopaminergic medication Cogwheel rigidity Gastroparesis Muscle fiber necrosis Impaired distal vibration sensation Nocturia Impaired distal proprioception Acute rhabdomyolysis Progressive ophthalmoplegia Quadriceps muscle weakness Sensorimotor neuropathy Abnormality of extrapyramidal motor function Ventriculomegaly Growth hormone excess Immunodeficiency Hyperhidrosis Congenital adrenal hyperplasia Abnormality of skin pigmentation Hepatic failure Nephropathy Recurrent fractures Pulmonary arterial hypertension Thickened skin Abnormality of the hair Precocious puberty Large hands Broad foot Coma Bone cyst Arterial stenosis Abnormal oral cavity morphology Edema Hypertonia Acidosis Gastroesophageal reflux Abnormality of the liver Lethargy Congenital cataract Abnormality of eye movement Peripheral axonal neuropathy Lactic acidosis Decreased circulating renin level Adrenogenital syndrome Increased intramuscular fat Poor coordination Intention tremor Proximal amyotrophy Limb ataxia Truncal ataxia Schizophrenia Dysdiadochokinesis Gowers sign Generalized amyotrophy Myopathic facies Multiple lipomas Nasal speech Chronic kidney disease Sensory impairment Prolactin excess Thick hair Speech articulation difficulties Enlarged interhemispheric fissure Cryptorchidism Pain Respiratory insufficiency due to muscle weakness Nausea Stage 5 chronic kidney disease Dyspnea Cerebral atrophy Spinal deformities Small hand Dementia Abnormal atrioventricular conduction Proximal upper limb muscle hypertrophy Decreased adiponectin level Acroosteolysis of distal phalanges (feet) Minimal subcutaneous fat Accelerated atherosclerosis Decreased serum leptin High palate Delayed speech and language development Motor delay Narrow nasal ridge Intellectual disability, mild Supraventricular arrhythmia Inability to walk Precocious atherosclerosis Progeroid facial appearance Kyphoscoliosis Difficulty walking Premature graying of hair Pallor Dysmetria Long face Falls Distal amyotrophy Distal sensory impairment Areflexia Cerebral cortical atrophy Labial pseudohypertrophy Angina pectoris Obesity High forehead Papule Narrow chest Thin vermilion border Spontaneous abortion Cranial nerve paralysis Cellulitis Short clavicles Abnormality of lipid metabolism Peripheral arterial stenosis Acute pancreatitis Abnormality of the musculature Abnormality of the menstrual cycle Muscle hypertrophy of the lower extremities Absence of subcutaneous fat Hypokalemic alkalosis Osteopoikilosis Female pseudohermaphroditism Abnormality of complement system Sunken cheeks Loss of truncal subcutaneous adipose tissue Enlarged peripheral nerve Myelin tomacula Abnormality of the face Sensory ataxia Respiratory failure Status epilepticus Severe global developmental delay Lower limb muscle weakness Paresthesia Kyphosis Diarrhea Gliosis Brain atrophy Microcephaly Memory impairment Marked muscular hypertrophy Loss of gluteal subcutaneous adipose tissue Prominent veins on trunk Limb-girdle muscle weakness Diplopia Loss of facial adipose tissue Progressive hearing impairment Calf muscle pseudohypertrophy Mutism Bilateral ptosis Apathy Abnormality of the neck Preeclampsia Abnormality of the thyroid gland Insomnia Focal white matter lesions



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