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:
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
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
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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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
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
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
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
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
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
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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Hyperreflexia and Limb-girdle muscular dystrophy, related diseases and genetic alterations
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