Skeletal muscle atrophy, and Hernia

Diseases related with Skeletal muscle atrophy and Hernia

In the following list you will find some of the most common rare diseases related to Skeletal muscle atrophy and Hernia that can help you solving undiagnosed cases.


Top matches:

Low match PROXIMAL SPINAL MUSCULAR ATROPHY TYPE 1


Proximal spinal muscular atrophy type 1 (SMA1) is a severe infantile form of proximal spinal muscular atrophy (see this term) characterized by severe and progressive muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.

PROXIMAL SPINAL MUSCULAR ATROPHY TYPE 1 Is also known as muscular atrophy, infantile|sma type 1|sma-i|infantile spinal muscular atrophy|sma, infantile acute form|sma1|werdnig-hoffmann disease|sma i|sma type i

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROXIMAL SPINAL MUSCULAR ATROPHY TYPE 1

Low match STEINERT MYOTONIC DYSTROPHY


Steinert disease, also known as myotonic dystrophy type 1, is a muscle disease characterized by myotonia and by multiorgan damage that combines various degrees of muscle weakness, arrhythmia and/or cardiac conduction disorders, cataract, endocrine damage, sleep disorders and baldness.

STEINERT MYOTONIC DYSTROPHY Is also known as dm1|md1|myotonic dystrophy type 1|steinert disease

Related symptoms:

  • Strabismus
  • Muscular hypotonia
  • Cataract
  • Cryptorchidism
  • Skeletal muscle atrophy


SOURCES: ORPHANET MENDELIAN

More info about STEINERT MYOTONIC DYSTROPHY

Low match NEUROGENIC ARTHROGRYPOSIS MULTIPLEX CONGENITA


Neurogenic arthrogryposis multiplex congenita is a form of arthrogryposis multiplex congenita characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is secondary to neurogenic muscular atrophy.

NEUROGENIC ARTHROGRYPOSIS MULTIPLEX CONGENITA Is also known as amc, neurogenic type

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Flexion contracture
  • Skeletal muscle atrophy
  • Talipes equinovarus


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEUROGENIC ARTHROGRYPOSIS MULTIPLEX CONGENITA

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Other less relevant matches:

Low match OSTEOGENESIS IMPERFECTA, TYPE XIII; OI13


Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility and low bone mass. Due to considerable phenotypic variability, Sillence et al. (1979) developed a classification of OI subtypes based on clinical features and disease severity: OI type I, with blue sclerae (OMIM ); perinatal lethal OI type II, also known as congenital OI (OMIM ); OI type III, a progressively deforming form with normal sclerae (OMIM ); and OI type IV, with normal sclerae (OMIM ). Most cases of OI are autosomal dominant with mutations in 1 of the 2 genes that code for type I collagen alpha chains, COL1A1 (OMIM ) and COL1A2 (OMIM ). Martinez-Glez et al. (2012) described osteogenesis imperfecta type XIII, an autosomal recessive form of the disorder characterized by normal teeth, faint blue sclerae, severe growth deficiency, borderline osteoporosis, and an average of 10 to 15 fractures a year affecting both upper and lower limbs and with severe bone deformity.

OSTEOGENESIS IMPERFECTA, TYPE XIII; OI13 Is also known as oi, type xiii

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay
  • Pain


SOURCES: OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE XIII; OI13

Low match SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT; SPG9A


Autosomal dominant spastic paraplegia-9A is a neurologic disorder characterized by onset of slowly progressive spasticity mainly affecting the lower limbs. The age at onset usually ranges from adolescence to adulthood, and patients have gait difficulties, motor neuropathy, and dysarthria. Additional variable features include cerebellar signs, cataract, pes cavus, and urinary urgency (summary by Coutelier et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A (OMIM ).

SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT; SPG9A Is also known as spastic paraparesis with amyotrophy, cataracts, and gastroesophageal reflux|cataracts with motor neuronopathy, short stature, and skeletal abnormalities

Related symptoms:

  • Global developmental delay
  • Short stature
  • Nystagmus
  • Muscle weakness
  • Cataract


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT; SPG9A

Low match ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME


Arhinia-choanal atresia-microphthalmia is a malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.

ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME Is also known as arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Cleft palate
  • Cataract
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME

Low match EHLERS-DANLOS SYNDROME DUE TO TENASCIN-X DEFICIENCY


Ehlers-Danlos syndrome due to tenascin-X deficiency is a type of Ehlers-Danlos syndrome characterized by generalized joint hypermobility, skin hyperextensibility and easy bruising without atrophic scarring. Other common features include foot and hand deformities (piezogenic papules, pes planus, broad forefeet, brachydactyly, and acrogenic skin of hands), severe fatigue and neuromuscular symptoms including muscle weakness and myalgia.

EHLERS-DANLOS SYNDROME DUE TO TENASCIN-X DEFICIENCY Is also known as eds, classic-like type|ehlers-danlos syndrome, classic-like type|ehlers-danlos syndrome due to tenascin-x deficiency|eds due to tnx deficiency|tnx deficiency

Related symptoms:

  • Muscle weakness
  • Muscular hypotonia
  • Pain
  • Peripheral neuropathy
  • Skeletal muscle atrophy


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about EHLERS-DANLOS SYNDROME DUE TO TENASCIN-X DEFICIENCY

Low match EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC AND DEAFNESS TYPE


Ehlers-Danlos syndrome, kyphoscoliotic and deafness type is a form of Ehlers-Danlos syndrome, characterized by severe generalized hypotonia at birth with severe early-onset kyphoscolosis along with joint hypermobility (without contractures) leading to recurrent dislocations, and sensorineural hearing impairment.

EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC AND DEAFNESS TYPE Is also known as ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss|ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness|edskmh|eds with progressive kyphoscoliosis, myopathy, and deafness|eds, kyphoscoliotic and he

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC AND DEAFNESS TYPE

Low match PERIPHERAL RESISTANCE TO THYROID HORMONES


Peripheral resistance to thyroid hormones may be a cause of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth.

Related symptoms:

  • Muscular hypotonia
  • Feeding difficulties
  • Constipation
  • Hypothyroidism
  • Coarse facial features


SOURCES: ORPHANET MENDELIAN

More info about PERIPHERAL RESISTANCE TO THYROID HORMONES

Low match HYPOTHYROIDISM DUE TO TSH RECEPTOR MUTATIONS


Hypothyroidism due to thyroid-stimulating hormone (TSH) receptor mutations is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH.

Related symptoms:

  • Muscular hypotonia
  • Feeding difficulties
  • Constipation
  • Hypothyroidism
  • Umbilical hernia


SOURCES: ORPHANET MENDELIAN

More info about HYPOTHYROIDISM DUE TO TSH RECEPTOR MUTATIONS

Top 5 symptoms//phenotypes associated to Skeletal muscle atrophy and Hernia

Symptoms // Phenotype % cases
Umbilical hernia Uncommon - Between 30% and 50% cases
Muscular hypotonia Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases
Flexion contracture Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Skeletal muscle atrophy and Hernia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Cataract Joint laxity Joint hypermobility Talipes equinovarus Generalized hypotonia

Rare Symptoms - Less than 30% cases


Hyperextensible skin Global developmental delay Abnormality of cardiovascular system morphology Blue sclerae Cryptorchidism Atrophic scars Hip dislocation Bruising susceptibility Short stature Soft skin Increased susceptibility to fractures Myopathy Gait disturbance Myopia Peripheral neuropathy Muscular dystrophy Scarring Hiatus hernia Proximal muscle weakness Abnormality of the skeletal system Hearing impairment Large fontanelles Respiratory distress Arachnodactyly Macroglossia Abdominal distention Sleep disturbance Proximal amyotrophy Jaundice Constipation Kyphoscoliosis Feeding difficulties Single transverse palmar crease Pain Inguinal hernia Hypothyroidism Abnormality of the sense of smell Lacrimation abnormality Diastema Lacrimal duct stenosis Arthritis Frontal encephalocele Aplasia/Hypoplasia involving the nose Aplasia of the nose Stroke Absent paranasal sinuses Myalgia Fatigue Arrhythmia Arthralgia Hypoplasia of teeth Primary amenorrhea Hyposmia Iris coloboma Edema Microphthalmia Midface retrusion Hypospadias Hypogonadism Micropenis Cleft lip Coloboma Corneal opacity Synophrys Delayed puberty Hypoplasia of the maxilla Hypoplastic labia majora Broad nasal tip Dental malocclusion Choanal atresia Encephalocele Hypogonadotrophic hypogonadism Scrotal hypoplasia Anosmia Reduced number of teeth Limb-girdle muscular dystrophy Anophthalmia Preauricular pit Agenesis of permanent teeth Joint hyperflexibility Unilateral renal agenesis Sensory neuropathy Congenital muscular dystrophy Osteopenia Pes planus Abnormality of the foot Microcornea Waddling gait Sloping forehead Hypotelorism Severe muscular hypotonia Cutis laxa Poor head control Easy fatigability Poor suck Disproportionate tall stature Elevated serum creatine phosphokinase Difficulty climbing stairs Follicular hyperkeratosis Cleft soft palate Bladder diverticulum Keloids High-frequency sensorineural hearing impairment Arterial rupture Abnormal eye morphology Aortic rupture Coarse facial features Abnormality of the face Dry skin Hyperkeratosis Patent ductus arteriosus Bifid uvula Bicornuate uterus Vesicoureteral reflux Gastrointestinal hemorrhage Mitral valve prolapse Ambiguous genitalia Thin skin Spina bifida Spina bifida occulta Rheumatoid arthritis Psoriasiform dermatitis High palate Adrenal hypoplasia Adrenal hyperplasia Precocious atherosclerosis Cardiomyopathy Increased connective tissue Muscle fiber splitting Poor wound healing Rectal prolapse Arteriosclerosis Congenital adrenal hyperplasia Ambiguous genitalia, female Premature arteriosclerosis Quadricuspid aortic valve Sensorineural hearing impairment Motor delay Epicanthus Visual impairment Abnormality of pelvic girdle bone morphology Low-set ears Micromelia Testicular atrophy Abnormality of the upper urinary tract Abnormal hair quantity First degree atrioventricular block Hernia of the abdominal wall Micrognathia Short nose Joint stiffness Craniosynostosis Camptodactyly of finger Arthrogryposis multiplex congenita Facial asymmetry Round face Non-midline cleft lip Hip dysplasia Oligohydramnios Elbow flexion contracture Congenital contracture Rocker bottom foot Hemiplegia/hemiparesis Multiple joint contractures Abnormality of the hip bone Aplasia/Hypoplasia of the radius Maternal diabetes Abnormality of the lower limb Abnormality of the upper limb Abnormality of the endocrine system Mask-like facies Skin dimples Recurrent pneumonia Ventricular septal defect Respiratory insufficiency Atrial septal defect Areflexia Abnormal heart morphology Recurrent respiratory infections Respiratory failure Muscular hypotonia of the trunk Paralysis Abnormal cardiac septum morphology Decreased fetal movement Tetraparesis Spinal muscular atrophy Myotonia Axonal degeneration EMG: neuropathic changes Tongue fasciculations Decreased number of large peripheral myelinated nerve fibers Degeneration of anterior horn cells Proximal muscle weakness in lower limbs Strabismus Hydrocephalus Intellectual disability, severe Hypertonia Facial palsy EMG abnormality Intellectual disability, progressive Intestinal atresia Abnormality of the shoulder Cleft palate Paraparesis Clinodactyly Delayed skeletal maturation Babinski sign Pes cavus Gastroesophageal reflux Spastic paraplegia Paraplegia Lower limb muscle weakness Abnormal cerebellum morphology Urinary incontinence Specific learning disability Lower limb spasticity Spastic paraparesis Dysarthria Impaired vibratory sensation Urinary urgency Generalized amyotrophy Progressive spasticity Short 5th finger Motor polyneuropathy Carpal bone hypoplasia Abnormal upper motor neuron morphology Shallow acetabular fossae Chorioretinal dystrophy Dysfunction of lateral corticospinal tracts Hypertelorism Vomiting Hyperreflexia Gastric ulcer Triangular face Congenital muscular torticollis Abnormality of calvarial morphology Abnormality of mesentery morphology Growth delay Long philtrum Osteoporosis Protruding ear Pectus carinatum Broad forehead Platyspondyly Thin vermilion border Recurrent fractures Decreased body weight Spasticity Long eyelashes Increased bone mineral density Wormian bones Delayed gross motor development Long palpebral fissure Dislocated radial head Osteomalacia Vertebral compression fractures Enuresis Dentinogenesis imperfecta Enuresis nocturna Angulated humerus Nystagmus Hoarse cry



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