Myopathy, and Azoospermia

Diseases related with Myopathy and Azoospermia

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


Top matches:

Low match SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1


Kennedy disease is an X-linked recessive form of spinal muscular atrophy. It occurs only in men. Age at onset is usually in the third to fifth decade of life, but earlier involvement has been reported. The disorder is characterized by slowly progressive limb and bulbar muscle weakness with fasciculations, muscle atrophy, and gynecomastia (Harding et al., 1982). The disorder is clinically similar to, but genetically distinct from, classic forms of autosomal spinal muscular atrophy (see, e.g., SMA1; {253300}).

SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1 Is also known as kd|bulbospinal neuronopathy, x-linked recessive|xbsn|spinal and bulbar muscular atrophy|kennedy disease|bulbospinal muscular atrophy, x-linked|sbma|kennedy spinal and bulbar muscular atrophy

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Muscular hypotonia
  • Pain
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1

Low match MYOTONIC DYSTROPHY 2; DM2


Myotonic dystrophy (DM) is a multisystem disorder and the most common form of muscular dystrophy in adults. Individuals with DM2 have muscle pain and stiffness, progressive muscle weakness, myotonia, male hypogonadism, cardiac arrhythmias, diabetes, and early cataracts. Other features may include cognitive dysfunction, hypersomnia, tremor, and hearing loss (summary by Heatwole et al., 2011).See also myotonic dystrophy-1 (DM1 ), caused by an expanded CTG repeat in the dystrophia myotonica protein kinase gene (DMPK ) on 19q13.Although originally reported as 2 disorders, myotonic dystrophy-2 and proximal myotonic myopathy are now referred to collectively as DM2 (Udd et al., 2003).

MYOTONIC DYSTROPHY 2; DM2 Is also known as promm|proximal myotonic myopathy|dystrophia myotonica 2|myotonic myopathy, proximal|ricker syndrome

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Muscle weakness
  • Pain
  • Cataract


SOURCES: ORPHANET OMIM MENDELIAN

More info about MYOTONIC DYSTROPHY 2; DM2

Low match WOLFRAM-LIKE SYNDROME


Wolfram-like syndrome is a rare endocrine disease characterized by the triad of adult-onset diabetes mellitus, progressive hearing loss (usually presenting in the first decade of life and principally of low to moderate frequencies), and/or juvenile-onset optic atrophy. Psychiatric (i.e. anxiety, depression, hallucinations) and sleep disorders, the only neurologic abnormalities observed in this disease, have been reported in rare cases. Unlike Wolfram syndrome, patients with Wolfram-like syndrome do not report endocrine or cardiac findings.

WOLFRAM-LIKE SYNDROME Is also known as hearing loss, progressive, with optic atrophy and/or impaired glucose regulation

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Visual impairment
  • Peripheral neuropathy


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about WOLFRAM-LIKE SYNDROME

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Other less relevant matches:

Low match WOLFRAM SYNDROME


Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Other related problems are urinary tract atony, ataxia, peripheral neuropathy, psychiatric disorders and/or seizures. 2 types of WS may be distinguished: type 1 and type 2 (WS1 and WS2).

WOLFRAM SYNDROME Is also known as didmoad syndrome|diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about WOLFRAM SYNDROME

Low match MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT; EVMPS


Multiple pterygium syndromes comprise a group of multiple congenital anomaly disorders characterized by webbing (pterygia) of the neck, elbows, and/or knees and joint contractures (arthrogryposis) (Morgan et al., 2006). The multiple pterygium syndromes are phenotypically and genetically heterogeneous but are traditionally divided into prenatally lethal (OMIM ) and nonlethal (Escobar) types.

MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT; EVMPS Is also known as escobar syndrome|multiple pterygium syndrome|pterygium syndrome|multiple pterygium syndrome, nonlethal type|pterygium colli syndrome|pterygium universale

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT; EVMPS

Low match CYSTINOSIS, NEPHROPATHIC; CTNS


Cystinosis has been classified as a lysosomal storage disorder on the basis of cytologic and other evidence pointing to the intralysosomal localization of stored cystine. Cystinosis differs from the other lysosomal diseases inasmuch as acid hydrolysis, the principal enzyme function of lysosomes, is not known to play a role in the metabolic disposition of cystine. The fact that plasma levels are well below saturation indicates that the defect is a cellular one. Within the cell, cystine is compartmentalized with acid phosphatase and is membrane-bound as demonstrated by electron microscopy. Ferritin accumulates in the same organelle which appears to be the lysosome.

CYSTINOSIS, NEPHROPATHIC; CTNS Is also known as cystinosin, defect of|lysosomal cystine transport protein, defect of

Related symptoms:

  • Short stature
  • Growth delay
  • Muscle weakness
  • Cognitive impairment
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about CYSTINOSIS, NEPHROPATHIC; CTNS

Low match ATTRV122I AMYLOIDOSIS


Transthyretin (TTR)-related familial amyloidotic cardiomyopathy is a hereditary TTR-related systemic amyloidosis (ATTR) with predominant cardiac involvement resulting from myocardial infiltration of abnormal amyloid protein.

ATTRV122I AMYLOIDOSIS Is also known as attr cardiomyopathy|attrv122i-related amyloidosis|transthyretin-related familial amyloid cardiomyopathy|transthyretin amyloid cardiopathy|ttr-related amyloid cardiomyopathy|ttr-related cardiac amyloidosis

Related symptoms:

  • Muscle weakness
  • Cardiomyopathy
  • Diarrhea
  • Congestive heart failure
  • Arrhythmia


SOURCES: ORPHANET MENDELIAN

More info about ATTRV122I AMYLOIDOSIS

Low match SPINOCEREBELLAR ATAXIA WITH EPILEPSY


Spinocerebellar ataxia with epilepsy is a rare, mitochondrial DNA maintenance syndrome characterized by cerebellar ataxia, sensory peripheral neuropathy, myoclonus, epilepsy, progressive cognitive impairment, late-onset ptosis and external ophthalmoplegia. Liver failure may also occur, most often in association with the use of antiepileptic drug sodium valproate.

SPINOCEREBELLAR ATAXIA WITH EPILEPSY Is also known as mitochondrial spinocerebellar ataxia with epilepsy|mscae|sensory ataxic neuropathy with mitochondrial dna deletions, autosomal recessive|scae

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA WITH EPILEPSY

Low match PRIMARY PIGMENTED NODULAR ADRENOCORTICAL DISEASE


Primary pigmented nodular adrenocortical disease (PPNAD) is a form of bilateral adrenocortical hyperplasia that is often associated with adrenocorticotrophin hormone (ACTH) independent Cushing syndrome (see this term) and is characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules (less than 1 cm in diameter).

PRIMARY PIGMENTED NODULAR ADRENOCORTICAL DISEASE Is also known as ppnad|primary pigmented nodular adrenal dysplasia|cushing syndrome, adrenal, due to ppnad3

Related symptoms:

  • Short stature
  • Muscle weakness
  • Hypertension
  • Skeletal muscle atrophy
  • Fatigue


SOURCES: ORPHANET OMIM MENDELIAN

More info about PRIMARY PIGMENTED NODULAR ADRENOCORTICAL DISEASE

Low match OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY


Syndromic optic atrophy, also known as DOA+ syndrome, is a neurologic disorder characterized most commonly by an insidious onset of visual loss and sensorineural hearing loss in childhood with variable presentation of other clinical manifestations including progressive external ophthalmoplegia (PEO), muscle cramps, hyperreflexia, and ataxia. There appears to be a wide range of intermediate phenotypes (Yu-Wai-Man et al., 2010).

OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY Is also known as dominant optic atrophy plus syndrome|doa+

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY

Top 5 symptoms//phenotypes associated to Myopathy and Azoospermia

Symptoms // Phenotype % cases
Muscle weakness Common - Between 50% and 80% cases
Hypogonadism Common - Between 50% and 80% cases
Ataxia Uncommon - Between 30% and 50% cases
Dysphagia Uncommon - Between 30% and 50% cases
Diabetes mellitus Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Male hypogonadism Hearing impairment Skeletal muscle atrophy Peripheral neuropathy Cardiomyopathy Ophthalmoplegia Delayed puberty Ptosis Sensorineural hearing impairment Cognitive impairment Gait disturbance Peripheral axonal neuropathy Tremor Dysarthria Respiratory insufficiency Short stature Optic atrophy Proximal muscle weakness Seizures Elevated serum creatine phosphokinase Impotence Areflexia Increased variability in muscle fiber diameter

Rare Symptoms - Less than 30% cases


Progressive external ophthalmoplegia Encephalopathy Confusion Dilated cardiomyopathy Distal muscle weakness Arrhythmia Congestive heart failure Hypertension Constipation Cataract Ragged-red muscle fibers Visual loss External ophthalmoplegia Hallucinations Anemia Nystagmus Pes cavus Polydipsia Abnormality of eye movement Diabetes insipidus Progressive hearing impairment Paresthesia Visual impairment Progressive cerebellar ataxia Retinopathy Intellectual disability Hypothyroidism Glaucoma Dementia Depressivity Autistic behavior Mental deterioration Limb muscle weakness Muscular dystrophy Blindness Infertility Type II diabetes mellitus Pain Hyporeflexia Pneumonia Axonal loss Myalgia Oligospermia Progressive muscle weakness Muscle cramps Hyponatremia Growth delay Anterior clefting of vertebral bodies Dysplastic patella Elevated intracellular cystine Hepatomegaly Diarrhea Oral motor hypotonia Fever Episodic metabolic acidosis Frontal bossing Abnormal cardiac septum morphology EMG: myopathic abnormalities Absence of labia majora Heart block Abnormal echocardiogram Reduced ejection fraction Axillary pterygium Neck pterygia Right ventricular hypertrophy Edema of the lower limbs Exertional dyspnea Exostosis of the external auditory canal Orthostatic hypotension Pericardial effusion Intercrural pterygium Splenomegaly Exercise intolerance Atrial fibrillation Vomiting Cerebral atrophy Renal insufficiency Biventricular hypertrophy Male infertility Glycosuria Polyuria Hypopigmentation of the skin Oral-pharyngeal dysphagia Generalized muscle weakness Memory impairment Cerebral calcification Abnormality of skin pigmentation Dehydration Pigmentary retinopathy Progressive neurologic deterioration Nephrolithiasis Hypohidrosis Chronic kidney disease Failure to thrive in infancy Metaphyseal widening Hypopigmentation of hair Exocrine pancreatic insufficiency Rickets Generalized aminoaciduria Delayed skeletal maturation Photophobia Rachitic rosary Retinal pigment epithelial mottling Corneal crystals Proteinuria Renal Fanconi syndrome Primary hypothyroidism Microscopic hematuria Hypophosphatemic rickets Recurrent corneal erosions Genu valgum Decreased plasma carnitine Heat intolerance Stage 5 chronic kidney disease Preeclampsia Flushing Atrial arrhythmia Increased serum lactate Peripheral edema Fatigue Slender build Adrenal hyperplasia Increased circulating cortisol level Striae distensae Increased susceptibility to fractures Thin skin Osteoporosis Atrophy/Degeneration involving the spinal cord Strabismus Sensory ataxic neuropathy Subsarcolemmal accumulations of abnormally shaped mitochondria Multiple mitochondrial DNA deletions Impaired distal proprioception Impaired distal vibration sensation Cytochrome C oxidase-negative muscle fibers Muscle fiber necrosis Pigmented micronodular adrenocortical disease Spasticity Acute encephalopathy Progressive sensorineural hearing impairment Centrocecal scotoma Tritanomaly Red-green dyschromatopsia Abnormal auditory evoked potentials Episodic ataxia Central scotoma Macrocytic anemia Abnormal electroretinogram Hyperreflexia Horizontal nystagmus Progressive visual loss Paraplegia Spastic paraplegia Reduced visual acuity Dystonia Cerebellar atrophy Gastroparesis Positive Romberg sign Cardiac amyloidosis Lactic acidosis Migraine Brain atrophy Gliosis Generalized myoclonic seizures Polyneuropathy Distal sensory impairment Falls EEG abnormality Focal-onset seizure Acidosis Gait ataxia Weight loss Myoclonus Headache Orthostatic syncope Abnormal ventricular filling Bilateral camptodactyly Neuronal loss in central nervous system Intestinal pseudo-obstruction Vestibular dysfunction Sensory ataxia Progressive gait ataxia Hyperventilation Centrally nucleated skeletal muscle fibers Decreased number of peripheral myelinated nerve fibers Gaze-evoked nystagmus Axonal degeneration Mildly elevated creatine phosphokinase Status epilepticus Sensory axonal neuropathy Ophthalmoparesis Abnormality of mitochondrial metabolism Bilateral ptosis Cerebral visual impairment Limb ataxia Frequent falls Hypoplastic heart Pulmonary hypoplasia Antecubital pterygium Elevated circulating follicle stimulating hormone level Diffuse leukoencephalopathy Frontal balding Type 2 muscle fiber atrophy Hypersomnia Arteriosclerosis Neck flexor weakness IgM deficiency IgG deficiency Iridescent posterior subcapsular cataract Neurofibrillary tangles Epiphora Myotonia Leukoencephalopathy Hypercholesterolemia Spontaneous abortion Palpitations Insulin insensitivity Autism Sudden cardiac death Scotoma Primary gonadal insufficiency Central diabetes insipidus Abnormality of the upper urinary tract Gastrointestinal dysmotility Severe postnatal growth retardation Severe vision loss Optic neuropathy Abnormality of color vision Anxiety Glucose intolerance Congenital sensorineural hearing impairment Schizophrenia Psychosis Bilateral sensorineural hearing impairment Pallor Abnormality of the pinna Decreased antibody level in blood Tachycardia Behavioral abnormality Fasciculations Amyotrophic lateral sclerosis Calf muscle hypertrophy Spinal muscular atrophy Limb-girdle muscular dystrophy Dysphonia Hyperlipidemia Aspiration Gynecomastia Bulbar palsy Intention tremor Abnormal cerebellum morphology Neurodegeneration Sensory neuropathy Facial asymmetry Difficulty walking Muscular hypotonia Decreased fertility Muscle fibrillation Lower limb muscle weakness Decreased LDL cholesterol concentration Proximal spinal muscular atrophy Laryngospasm Erectile abnormalities Exercise-induced muscle cramps Motor neuron atrophy Limb tremor Tongue atrophy Hyperlipoproteinemia Abnormality of lipid metabolism Testicular atrophy Kinetic tremor Distal lower limb amyotrophy Bulbar signs Aspiration pneumonia Hand tremor Abnormality of the mouth Overweight Moderate hearing impairment Cerebral cortical atrophy Cervical C2/C3 vertebral fusion Congenital diaphragmatic hernia Congenital contracture Pterygium Cutaneous syndactyly Aortic regurgitation Abnormal vertebral morphology Abnormality of the genital system Decreased fetal movement Dental malocclusion Rocker bottom foot Downturned corners of mouth Long face Arachnodactyly Talipes Arthrogryposis multiplex congenita Hip dislocation Respiratory tract infection Neonatal respiratory distress Multiple joint contractures Abnormality of the kidney Diaphragmatic eventration Prune belly Talipes calcaneovalgus Camptodactyly of toe Popliteal pterygium Multiple pterygia Clitoral hypoplasia Long clavicles Fused cervical vertebrae Vertebral fusion Rib fusion Patellar aplasia Furrowed tongue Abnormality of the neck Down-sloping shoulders Distal arthrogryposis Hypoplastic nipples Dislocated radial head Camptodactyly Conductive hearing impairment Developmental regression Abnormality of the urinary system Micrognathia Hypertelorism Scoliosis Abnormality of mesentery morphology Gastric ulcer Central apnea Dysuria Abnormal autonomic nervous system physiology Cleft palate Recurrent urinary tract infections Gastrointestinal hemorrhage Sleep disturbance Nephropathy Malabsorption Joint stiffness Feeding difficulties in infancy Abnormal facial shape Cryptorchidism Umbilical hernia Long philtrum Narrow mouth Micropenis Inguinal hernia Pectus excavatum Hypospadias Hernia Syndactyly Kyphosis Low-set ears Respiratory distress Short neck Talipes equinovarus Abnormality of the skeletal system Downslanted palpebral fissures Epicanthus High palate Flexion contracture Abnormal amplitude of pattern reversal visual evoked potentials



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