Muscle weakness, and Hernia

Diseases related with Muscle weakness and Hernia

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


Top matches:

Low match THYROID ECTOPIA


Thyroid ectopia is a form of thyroid dysgenesis (see this term) characterized by an ectopic location of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Growth delay
  • Muscle weakness
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about THYROID ECTOPIA

Low match HYPOSMIA-NASAL AND OCULAR HYPOPLASIA-HYPOGONADOTROPIC HYPOGONADISM 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

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 43; MRD43


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 43; MRD43

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Other less relevant matches:

Low match BECKWITH-WIEDEMANN SYNDROME DUE TO NSD1 MUTATION


Related symptoms:

  • Scoliosis
  • Ptosis
  • Epicanthus
  • Macrotia
  • Umbilical hernia


SOURCES: ORPHANET MENDELIAN

More info about BECKWITH-WIEDEMANN SYNDROME DUE TO NSD1 MUTATION

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 EHLERS-DANLOS SYNDROME TYPE 7B


Arthrochalasia-type EDS is distinguished from other types of EDS by the frequency of congenital hip dislocation and extreme joint laxity with recurrent joint subluxations and minimal skin involvement (Byers et al., 1997; Giunta et al., 2008).For a discussion of genetic heterogeneity of arthrochalasia-type EDS, see {130060}.

EHLERS-DANLOS SYNDROME TYPE 7B Is also known as eds viib|ehlers-danlos syndrome, type viib, autosomal dominant|eds7b

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Micrognathia
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME TYPE 7B

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 EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2; EDSMC2


The musculocontractural type of Ehlers-Danlos syndrome is characterized by progressive multisystem fragility-related manifestations, including joint dislocations and deformities; skin hyperextensibility, bruisability, and fragility, with recurrent large subcutaneous hematomas; cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications; and myopathy, featuring muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood, resulting in gross motor developmental delay (summary by Muller et al., 2013).For a discussion of genetic heterogeneity of the musculocontractural type of Ehlers-Danlos syndrome, see EDSMC1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Hypertelorism
  • Muscle weakness
  • Abnormal facial shape
  • Pain


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2; EDSMC2

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

Top 5 symptoms//phenotypes associated to Muscle weakness and Hernia

Symptoms // Phenotype % cases
Umbilical hernia Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Gastroesophageal reflux Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Inguinal hernia Skeletal muscle atrophy Cryptorchidism Cataract Generalized hypotonia

Rare Symptoms - Less than 30% cases


Large for gestational age Hypertelorism Abnormal facial shape Spasticity Delayed speech and language development Cerebral atrophy Hyperextensible skin Narrow mouth Delayed gross motor development Autistic behavior Joint dislocation Overgrowth Talipes equinovarus Hip dislocation Neonatal hypoglycemia Hemihypertrophy Bruising susceptibility Joint hypermobility Seizures Abnormality of the skeletal system Ventricular septal defect Respiratory distress Abnormal heart morphology Joint laxity Clinodactyly Blue sclerae Fragile skin Abnormality of the face Muscular hypotonia Abdominal wall muscle weakness Intellectual disability, severe Cleft palate Macroglossia Constipation Gait disturbance Facial asymmetry Hepatomegaly Splenomegaly Micropenis Polyhydramnios Hypoglycemia Short 5th finger Abnormality of the kidney Omphalocele Premature birth Hiatus hernia Hernia of the abdominal wall Abnormality of the outer ear Progressive spasticity Nephroblastoma Generalized amyotrophy Urinary urgency Abnormality of the ureter Enlarged kidney Neoplasm Testicular atrophy First degree atrioventricular block Abnormality of cardiovascular system morphology Poor wound healing Excessive wrinkled skin Chorioretinal dystrophy Subcutaneous hemorrhage Strabismus Hydrocephalus Hypertonia Shallow acetabular fossae Abnormal upper motor neuron morphology Carpal bone hypoplasia Abnormal hair quantity Facial palsy EMG abnormality Intellectual disability, progressive Myotonia Motor polyneuropathy Mask-like facies Non-midline cleft lip Abnormality of the endocrine system Diastasis recti Abnormality of the upper urinary tract Nevus flammeus Visceromegaly Myopia Bilateral talipes equinovarus Arachnodactyly Abnormal cerebellum morphology Generalized muscle weakness Mitral valve prolapse Lower limb muscle weakness Mitral regurgitation Paraplegia Dental crowding Adducted thumb Patent foramen ovale Facial hypotonia Talipes Spastic paraplegia Hypoplasia of the musculature Pes cavus Babinski sign Delayed skeletal maturation Nystagmus Vomiting Peripheral neuropathy Hyperreflexia Dysarthria Urinary incontinence Scarring Rhabdomyosarcoma Motor delay Impaired vibratory sensation Abdominal wall defect Anterior creases of earlobe Embryonal neoplasm Abnormality of pelvic girdle bone morphology Spastic paraparesis Auricular pit Paraparesis Pain High palate Downslanted palpebral fissures Specific learning disability Frontal bossing Myopathy Lower limb spasticity Long philtrum Midface retrusion Brachycephaly Hyperextensibility of the finger joints Myalgia Telecanthus Camptodactyly Protruding ear Arthralgia Micrognathia Soft skin Behavioral abnormality Absent nares Abnormality of the midface Hypoplasia of the olfactory bulb Intellectual disability Microcephaly Feeding difficulties Wide nasal bridge Anteverted nares Hypoplasia of the corpus callosum Dystonia Failure of eruption of permanent teeth Absent speech Hyperactivity Autism High forehead Thin upper lip vermilion Anxiety Attention deficit hyperactivity disorder Prominent nasal bridge Poor speech Wide nose Single naris Hyposmia Hip dysplasia Microphthalmia Growth delay Hypothyroidism Coarse facial features Jaundice Abdominal distention Large fontanelles Abnormality of the thyroid gland Hypersomnia Ectopic thyroid Blindness Visual loss Misalignment of teeth Hypogonadism Iris coloboma Bifid uvula Hypoplasia of penis Amblyopia Gynecomastia Anosmia Anophthalmia External genital hypoplasia Submucous cleft hard palate Tapered finger Short chin Atrophic scars Proximal muscle weakness in lower limbs Tetraparesis Recurrent pneumonia Spinal muscular atrophy Axonal degeneration EMG: neuropathic changes Proximal amyotrophy Tongue fasciculations Decreased number of large peripheral myelinated nerve fibers Degeneration of anterior horn cells Depressed nasal bridge Abnormal cardiac septum morphology Kyphosis Osteoporosis Pes planus Hyperlordosis Joint hyperflexibility Recurrent fractures Osteoarthritis Congenital hip dislocation Wormian bones Hallux valgus Decreased fetal movement Paralysis Impulsivity Deep palmar crease Ptosis Epicanthus Macrotia Craniosynostosis Dolichocephaly Vesicoureteral reflux Plagiocephaly Multiple renal cysts Fragile nails Hyperinsulinemic hypoglycemia Moderate global developmental delay Muscular hypotonia of the trunk Deep-set nails Abnormality of the hairline Abnormality of the palpebral fissures Flexion contracture Respiratory insufficiency Atrial septal defect Areflexia Recurrent respiratory infections Respiratory failure Proximal muscle weakness Dysfunction of lateral corticospinal tracts



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