Muscle weakness, and Hypogonadism

Diseases related with Muscle weakness and Hypogonadism

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

Top matches:

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

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

This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism.

HYPOSMIA-NASAL AND OCULAR HYPOPLASIA-HYPOGONADOTROPIC HYPOGONADISM SYNDROME Is also known as bosma arhinia-microphthalmia syndrome|bosma-henkin-christiansen syndrome

Related symptoms:

  • Cleft palate
  • Cataract
  • Cryptorchidism
  • Blindness
  • Microphthalmia


SOURCES: ORPHANET MENDELIAN

More info about HYPOSMIA-NASAL AND OCULAR HYPOPLASIA-HYPOGONADOTROPIC HYPOGONADISM SYNDROME

Other less relevant matches:

MYASTHENIC SYNDROME, CONGENITAL, 22; CMS22 Is also known as prepl deficiency

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Muscle weakness
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 22; CMS22

Autosomal dominant spastic paraplegia type 3 is a rare, pure or complex subtype of hereditary spastic paraplegia, with highly variable phenotype, typically characterized by childhood-onset of minimally progressive, bilateral, mainly symmetric lower limb spasticity and weakness, associated with pes cavus, diminished vibration sense, sphincter disturbances and/or urinary bladder hyperactivity. Additional associated manifestations may include scoliosis, mild intellectual disability, optic atrophy, axonal motor neuropathy and/or distal amyotrophy.

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 3 Is also known as strÜmpell disease

Related symptoms:

  • Global developmental delay
  • Ataxia
  • Growth delay
  • Cataract
  • Cognitive impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 3

Hypomyelinating leukodystrophy-11 is an autosomal recessive neurologic disorder characterized by delayed psychomotor development and other neurologic features associated with hypomyelination on brain imaging. Some patients may have additional nonneurologic features, particularly dental abnormalities and possibly hypogonadotropic hypogonadism (summary by Thiffault et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see {312080}.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Spasticity
  • Myopia


SOURCES: OMIM MENDELIAN

More info about LEUKODYSTROPHY, HYPOMYELINATING, 11; HLD11

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

Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families.

INFANTILE ONSET SPINOCEREBELLAR ATAXIA Is also known as ophthalmoplegia-hypotonia-ataxia-hypoacusis-athetosis syndrome|spinocerebellar ataxia, infantile, with sensory neuropathy|iosca|spinocerebellar ataxia 8, formerly|ophthalmoplegia, hypotonia, ataxia, hypoacusis, and athetosis|ohaha syndrome|sca8, formerly|

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about INFANTILE ONSET SPINOCEREBELLAR ATAXIA

Beta-thalassemia is characterized by a reduced production of hemoglobin A (HbA, alpha-2/beta-2), which results from the reduced synthesis of beta-globin chains relative to alpha-globin chains, thus causing an imbalance in globin chain production and hence abnormal erythropoiesis. The disorder is clinically heterogeneous (summary by Ottolenghi et al., 1975).Absence of beta globin causes beta-zero-thalassemia. Reduced amounts of detectable beta globin causes beta-plus-thalassemia. For clinical purposes, beta-thalassemia is divided into thalassemia major (transfusion dependent), thalassemia intermedia (of intermediate severity), and thalassemia minor (asymptomatic, carrier state). The molecular and clinical aspects of the beta-thalassemias were reviewed by Olivieri (1999).The remarkable phenotypic diversity of the beta-thalassemias reflects the heterogeneity of mutations at the HBB locus, the action of many secondary and tertiary modifiers, and a wide range of environmental factors (Weatherall, 2001).

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Muscle weakness
  • Anemia
  • Feeding difficulties


SOURCES: OMIM ORPHANET MENDELIAN

More info about BETA-THALASSEMIA

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 Muscle weakness and Hypogonadism

Symptoms // Phenotype % cases
Ataxia Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Peripheral neuropathy Uncommon - Between 30% and 50% cases
Osteoporosis Uncommon - Between 30% and 50% cases
Cerebellar atrophy Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Rare Symptoms - Less than 30% cases

Spasticity Gait disturbance Cognitive impairment Growth delay Short stature Global developmental delay Hypergonadotropic hypogonadism Motor delay Feeding difficulties Ptosis Generalized hypotonia Dysarthria Splenomegaly Cataract Elevated hepatic transaminase Lethargy Hypogonadotrophic hypogonadism Abnormality of iron homeostasis Seizures Hearing impairment Strabismus Optic atrophy Encephalopathy Areflexia Ophthalmoplegia Abnormality of eye movement Anemia Visual loss Hepatomegaly Diabetes mellitus Polyneuropathy Pes cavus Infertility Fatigue Skeletal muscle atrophy Myopathy Decreased number of peripheral myelinated nerve fibers Hypertension Reduced tendon reflexes Sensory axonal neuropathy Involuntary movements Psychosis Mutism Status epilepticus Athetosis Clumsiness Testicular dysgenesis Poor eye contact Epileptic encephalopathy Atrophy/Degeneration affecting the brainstem Excessive daytime somnolence Loss of ability to walk Mood swings Abnormality of the autonomic nervous system Epilepsia partialis continua Focal clonic seizures Failure to thrive Fever Specific learning disability Nausea Migraine Thin skin Adrenal hyperplasia Abnormality of the anterior pituitary Elevated transferrin saturation Abnormality of endocrine pancreas physiology Increased circulating cortisol level Striae distensae Nystagmus Increased susceptibility to fractures Muscular hypotonia Vomiting Sensory neuropathy Headache Myoclonus Cerebral cortical atrophy Intellectual disability, moderate Abnormality of the eye Abnormality of movement Peripheral axonal neuropathy Respiratory insufficiency Dyskinesia Abnormality of the skeletal system Thrombocytopenia Diarrhea External ophthalmoplegia Hyperreflexia Dysphagia Dystonia Reduced visual acuity Autistic behavior Spastic paraplegia Paraplegia Muscle cramps Progressive visual loss Horizontal nystagmus Ragged-red muscle fibers Reduced beta/alpha synthesis ratio Abnormal electroretinogram Increased variability in muscle fiber diameter Progressive sensorineural hearing impairment Macrocytic anemia Central scotoma Progressive external ophthalmoplegia Episodic ataxia Abnormal auditory evoked potentials Red-green dyschromatopsia Tritanomaly Centrocecal scotoma Sensorineural hearing impairment Abnormality of temperature regulation Congenital hepatic fibrosis Venous thrombosis Delayed skeletal maturation Osteopenia Jaundice Hepatosplenomegaly Hypertrophic cardiomyopathy Irritability Pallor Postural instability Hepatitis Skin ulcer Reduced bone mineral density Hypochromic anemia Cholelithiasis Microcytic anemia Osteomalacia Abnormality of the skull Anisocytosis Anemia of inadequate production Poikilocytosis Hypochromic microcytic anemia Decreased mean corpuscular volume Portal fibrosis Abnormal hemoglobin Increased serum iron Impotence Increased serum ferritin Male hypogonadism Failure of eruption of permanent teeth Single naris Absent nares Abnormality of the midface Hypoplasia of the olfactory bulb Abnormality of peripheral nerve conduction Abnormal vagina morphology Decreased serum estradiol Decreased serum testosterone level Gonadoblastoma Neonatal hypotonia Hyposmia Facial palsy Growth hormone deficiency Waddling gait Narrow forehead Increased circulating gonadotropin level Tented upper lip vermilion Cystinuria Gonadal dysgenesis Hypoplasia of the uterus Steppage gait Abdominal wall muscle weakness Misalignment of teeth Obesity Blindness Sensory ataxic neuropathy Gonadal dysgenesis with female appearance, male Abnormal peripheral myelination Gonadal dysgenesis, male Blind vagina Abnormality of peripheral nerves Minifascicle formation Cleft palate Streak ovary Cryptorchidism Microphthalmia Submucous cleft hard palate Abnormality of female external genitalia Inguinal hernia Iris coloboma Bifid uvula Hypoplasia of penis Amblyopia Gynecomastia Anosmia Anophthalmia External genital hypoplasia Sensorimotor neuropathy Babinski sign Generalized hyperpigmentation Abnormality of the liver Abnormality of the nervous system Leukodystrophy CNS hypomyelination Pain Cardiomyopathy Congestive heart failure Distal muscle weakness Arrhythmia Abdominal pain Arthritis Dilated cardiomyopathy Hypoplasia of the corpus callosum Pigmented micronodular adrenocortical disease Delayed puberty Cirrhosis Amenorrhea Hyperpigmentation of the skin Slender build Azoospermia Portal hypertension Distal sensory loss of all modalities Arthropathy Abnormality of the dentition Tremor Rod-cone dystrophy Impaired vibratory sensation Polydactyly Rigidity Abnormality of the kidney Postaxial polydactyly Bradykinesia Renal dysplasia Frequent falls Lower limb spasticity Spastic gait Cone/cone-rod dystrophy Toe walking Myopia Urinary urgency Macular dystrophy Lower limb hyperreflexia Ankle clonus Distal lower limb amyotrophy Distal lower limb muscle weakness Cystic renal dysplasia Lower limb hypertonia Hydrometrocolpos Hyperesthesia Primary amenorrhea Abnormal amplitude of pattern reversal visual evoked potentials


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