Muscular hypotonia, and Gynecomastia

Diseases related with Muscular hypotonia and Gynecomastia

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

Top matches:

Medium match KENNEDY DISEASE

Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterized by proximal and bulbar muscle wasting.

KENNEDY DISEASE Is also known as x-linked bulbospinal muscular atrophy|x-linked bsma|x-linked bulbospinal amyotrophy|x-linked spinal and bulbar muscular atrophy|smax1|sbma

Related symptoms:

  • Muscular hypotonia
  • Dysarthria
  • Skeletal muscle atrophy
  • Gait disturbance
  • Hyporeflexia


SOURCES: ORPHANET MENDELIAN

More info about KENNEDY DISEASE

Cerebellar ataxia-hypogonadism syndrome is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia-hypogonadism syndrome belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as ataxia-hypogonadism-choroidal dystrophy syndrome (see this term).

CEREBELLAR ATAXIA-HYPOGONADISM SYNDROME Is also known as luteinizing hormone-releasing hormone deficiency with ataxia|gordon-holmes syndrome

Related symptoms:

  • Short stature
  • Ataxia
  • Nystagmus
  • Muscular hypotonia
  • Optic atrophy


SOURCES: ORPHANET MENDELIAN

More info about CEREBELLAR ATAXIA-HYPOGONADISM SYNDROME

This syndrome is characterised by childhood-onset progressive ataxia and cerebellar atrophy.

AUTOSOMAL RECESSIVE ATAXIA DUE TO UBIQUINONE DEFICIENCY Is also known as arca2|autosomal recessive cerebellar ataxia type 2|spinocerebellar ataxia, autosomal recessive 9|scar9|autosomal recessive ataxia due to coenzyme q10 deficiency|autosomal recessive spinocerebellar ataxia type 9

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE ATAXIA DUE TO UBIQUINONE DEFICIENCY

Other less relevant matches:

Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism.

XQ27.3Q28 DUPLICATION SYNDROME Is also known as trisomy xq27.3q28|dup(x)(q27.3q28)|xq27.3-q28 microduplication syndrome|trisomy xq27.3-q28

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about XQ27.3Q28 DUPLICATION SYNDROME

Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome is a life-threatening multiorgan disorder which develops in the first months of life, presenting with respiratory distress and proteinuria in the nephrotic range, and leading to severe interstitial lung disease and renal failure. Some patients additionally display cutaneous alterations, ranging from blistering and skin erosions to an epidermolysis bullosa-like phenotype, with toe nail dystrophy and sparse hair.

JUNCTIONAL EPIDERMOLYSIS BULLOSA WITH RESPIRATORY AND RENAL INVOLVEMENT Is also known as jeb-rr|jeb with respiratory and renal involvement|congenital interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome|congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome|congenital ilneb syndrome|conge

Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Muscular hypotonia
  • Fever
  • Respiratory distress


SOURCES: OMIM ORPHANET MENDELIAN

More info about JUNCTIONAL EPIDERMOLYSIS BULLOSA WITH RESPIRATORY AND RENAL INVOLVEMENT

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

Medium match KALLMANN SYNDROME

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

Riboflavin transporter deficiency (RTD) is a progressive motor neuron disorder characterized by respiratory insufficiency, sensorineural deafness and progressive ponto-bulbar palsy.

RIBOFLAVIN TRANSPORTER DEFICIENCY Is also known as sensorineural hearing loss-pontobulbar palsy syndrome|brown-vialetto-van laere syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Muscle weakness
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about RIBOFLAVIN TRANSPORTER DEFICIENCY

Wilson-Turner syndrome (WTS) is a very rare X-linked multisystem genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature.

WILSON-TURNER SYNDROME Is also known as wts|mental retardation, x-linked, with gynecomastia and obesity|mrxs6|mental retardation, x-linked, syndromic 6|x-linked intellectual disability-gynecomastia-obesity syndrome

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about WILSON-TURNER SYNDROME

6q terminal deletion syndrome is marked by a characteristic facial dysmorphism, short neck and psychomotor retardation, generally associated with a range of non-specific malformations.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about 6Q TERMINAL DELETION SYNDROME

Top 5 symptoms//phenotypes associated to Muscular hypotonia and Gynecomastia

Symptoms // Phenotype % cases
Seizures Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases
Hypogonadism Uncommon - Between 30% and 50% cases
Dysarthria Uncommon - Between 30% and 50% cases
Obesity Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Muscular hypotonia and Gynecomastia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Decreased fertility Tremor Global developmental delay Intellectual disability Muscle weakness Cryptorchidism Abnormal facial shape Pes cavus Hypogonadotrophic hypogonadism Decreased testicular size Gait disturbance Short stature Hyporeflexia Nystagmus Skeletal muscle atrophy Erectile abnormalities

Rare Symptoms - Less than 30% cases

Gait ataxia Proximal muscle weakness Abnormality of color vision Failure to thrive Ptosis Visual impairment Small hand Deeply set eye Micropenis Myoclonus Short foot Pes planus Delayed puberty Truncal obesity Hypermetropia Dysphagia Limb muscle weakness Microcephaly Dysphonia Type II diabetes mellitus Delayed skeletal maturation Brachycephaly Neurological speech impairment Bulbar palsy Intellectual disability, mild Prominent forehead Pneumonia Micrognathia Testicular atrophy Generalized hypotonia Strabismus Delayed speech and language development Hypertelorism Abnormality of lipid metabolism Specific learning disability Anterior hypopituitarism Abnormality of female internal genitalia Breast hypoplasia Periventricular gray matter heterotopia Bimanual synkinesia Dyspareunia Hypothalamic gonadotropin-releasing hormone deficiency Hypertension Respiratory insufficiency Aggressive behavior Facial palsy Abnormality of eye movement Optic disc pallor Hallucinations Abnormal autonomic nervous system physiology Cerebral cortical atrophy Renal agenesis Hyposmia Proximal spinal muscular atrophy Bulbar signs Distal lower limb amyotrophy Oligospermia Kinetic tremor Hyperlipoproteinemia Decreased LDL cholesterol concentration Tongue atrophy Limb tremor Motor neuron atrophy Exercise-induced muscle cramps Laryngospasm Sensorineural hearing impairment Abnormality of the voice Cleft palate Abnormality of cardiovascular system morphology Skeletal dysplasia Paraplegia Ichthyosis Recurrent fractures Progressive hearing impairment Hypoplasia of penis Primary amenorrhea Reduced bone mineral density Anosmia Reduced number of teeth Cranial nerve paralysis Retrognathia Sleep apnea Wide intermamillary distance Cerebellar hypoplasia Hyperkeratosis Joint laxity Low-set, posteriorly rotated ears Dolichocephaly Abnormality of the cerebral white matter Dysmetria Polymicrogyria Thick vermilion border High, narrow palate Highly arched eyebrow Hypsarrhythmia Hypospadias Short palpebral fissure Heterotopia Low anterior hairline Plagiocephaly Infantile muscular hypotonia Abnormality of neuronal migration Hallux valgus Prominent metopic ridge Broad philtrum Phimosis Colpocephaly Clinodactyly Hypoplasia of the corpus callosum Cachexia Thick eyebrow Diabetes insipidus Iris hypopigmentation Abnormal cranial nerve morphology Abnormality of macular pigmentation Cataract Kyphosis Absent speech Talipes calcaneovalgus Thin upper lip vermilion Microtia Poor speech Hand tremor Short neck Tapered finger Broad nasal tip Prominent supraorbital ridges Emotional lability Decreased muscle mass Aplasia/Hypoplasia of the ribs Misalignment of teeth Malar prominence Uplifted earlobe Short ear Scoliosis Macrocephaly Aspiration pneumonia Difficulty walking Abnormality of the mouth Small for gestational age Axonal degeneration Central hypotonia Increased CSF lactate Generalized tonic seizures Increased intramyocellular lipid droplets Epilepsia partialis continua Talipes cavus equinovarus Focal T2 hypointense basal ganglia lesion Growth delay Intrauterine growth retardation Neonatal hypotonia Thin vermilion border Brisk reflexes Bulbous nose Hypergonadotropic hypogonadism Premature ovarian insufficiency High pitched voice Sparse body hair Increased circulating gonadotropin level Decreased serum testosterone level Abdominal obesity Primary testicular failure Fever Respiratory distress Neurodevelopmental delay Exercise intolerance Recurrent respiratory infections Hearing impairment Abnormality of movement Optic atrophy Behavioral abnormality Clinodactyly of the 5th finger Dementia Abnormality of retinal pigmentation Abnormal electroretinogram Personality changes Hemiplegia/hemiparesis Supernumerary nipple Abnormality of the hypothalamus-pituitary axis Cognitive impairment EMG abnormality Hyperreflexia Cerebellar atrophy Dystonia Muscular hypotonia of the trunk Intellectual disability, moderate Developmental regression Abnormal pyramidal sign Stroke Lactic acidosis Progressive cerebellar ataxia Increased serum lactate Renal insufficiency Narrow mouth Overweight Abnormal cerebellum morphology Peripheral neuropathy Myopathy Areflexia Elevated serum creatine phosphokinase Myalgia Muscular dystrophy Infertility Facial asymmetry Sensory neuropathy Neurodegeneration Muscle cramps Intention tremor Junctional split Progressive muscle weakness Fasciculations Aspiration Hyperlipidemia Limb-girdle muscular dystrophy Spinal muscular atrophy Calf muscle hypertrophy Amyotrophic lateral sclerosis Impotence Muscle fibrillation Axonal loss Pain Respiratory acidosis Macrotia Abnormal lung morphology Proteinuria Respiratory tract infection Erythema Nail dystrophy Narrow chest Round face Abnormal blistering of the skin Cyanosis Nephrotic syndrome Fine hair Sparse scalp hair Sparse and thin eyebrow Crossed fused renal ectopia Recurrent pneumonia Sparse eyelashes Hypoalbuminemia Glomerulosclerosis Neonatal respiratory distress Focal segmental glomerulosclerosis Ectopic kidney Interstitial pulmonary abnormality Fragile skin Tubular atrophy Onycholysis Decreased glomerular filtration rate Abnormality of the cerebral cortex


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