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 EHLERS-DANLOS SYNDROME TYPE 7B

EHLERS-DANLOS SYNDROME TYPE 7B Is also known as eds viib

Related symptoms:

  • Short stature
  • Muscle weakness
  • Hernia
  • Osteoporosis
  • Gastroesophageal reflux


SOURCES: SCTID UMLS ORPHANET

More info about EHLERS-DANLOS SYNDROME TYPE 7B

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
  • Muscular hypotonia
  • Muscle weakness


SOURCES: ORPHANET UMLS

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
  • Cryptorchidism
  • Cataract
  • Blindness
  • Microphthalmia


SOURCES: ORPHANET

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

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Other less relevant matches:

Low match SPINAL MUSCULAR ATROPHY, TYPE I; SMA1

Spinal muscular atrophy refers to a group of autosomal recessive neuromuscular disorders characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy (summary by Wirth, 2000).Four types of SMA are recognized depending on the age of onset, the maximum muscular activity achieved, and survivorship: type I, severe infantile acute SMA, or Werdnig-Hoffman disease; type II (OMIM ), or infantile chronic SMA; type III (OMIM ), juvenile SMA, or Wohlfart-Kugelberg-Welander disease; and type IV (OMIM ), or adult-onset SMA. All types are caused by recessive mutations in the SMN1 gene.Lunn and Wang (2008) provided a detailed review of clinical features, molecular pathogenesis, and therapeutic strategies for SMA.

SPINAL MUSCULAR ATROPHY, TYPE I; SMA1 Is also known as sma i, sma, infantile acute form, muscular atrophy, infantile, werdnig-hoffmann disease;infantile spinal muscular atrophy; sma type 1; sma type i; sma-i; sma1; werdnig-hoffmann disease

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Generalized hypotonia
  • Motor delay
  • Muscle weakness


SOURCES: UMLS ICD10 SCTID ORPHANET OMIM

More info about SPINAL MUSCULAR ATROPHY, TYPE I; SMA1

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:

  • Autosomal recessive inheritance
  • Abnormal facial shape
  • Muscle weakness
  • Myopathy
  • High palate


SOURCES: MONDO UMLS OMIM

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

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 43; MRD43

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: UMLS DOID MONDO OMIM GARD

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 43; MRD43

Low match CEREBRAL ARTERIOPATHY, AUTOSOMAL RECESSIVE, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY; CARASIL

Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy is a nonhypertensive cerebral small vessel arteriopathy characterized by alopecia, spondylosis, and progressive motor dysfunction and dementia. Onset is usually in the second or third decade (summary by Hara et al., 2009).

CEREBRAL ARTERIOPATHY, AUTOSOMAL RECESSIVE, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY; CARASIL Is also known as maeda syndrome, subcortical vascular encephalopathy, progressive, cerebrovascular disease with thin skin, alopecia, and disc disease;cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; maeda syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Ataxia
  • Nystagmus
  • Cognitive impairment
  • Spasticity


SOURCES: ORPHANET OMIM GARD UMLS MONDO MESH SCTID

More info about CEREBRAL ARTERIOPATHY, AUTOSOMAL RECESSIVE, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY; CARASIL

Low match MITOCHONDRIAL COMPLEX I DEFICIENCY DUE TO ACAD9 DEFICIENCY

ACAD9 deficiency is an autosomal recessive multisystem disorder characterized by infantile onset of acute metabolic acidosis, hypertrophic cardiomyopathy, and muscle weakness associated with a deficiency of mitochondrial complex I activity in muscle, liver, and fibroblasts (summary by Haack et al., 2010).For a general description and a discussion of genetic heterogeneity of mitochondrial complex I deficiency, see {252010}.

MITOCHONDRIAL COMPLEX I DEFICIENCY DUE TO ACAD9 DEFICIENCY Is also known as acyl-coa dehydrogenase 9 deficiency, acad9 deficiency;acad9 deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness
  • Cognitive impairment


SOURCES: MONDO OMIM UMLS SCTID MESH ORPHANET

More info about MITOCHONDRIAL COMPLEX I DEFICIENCY DUE TO ACAD9 DEFICIENCY

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

Tenascin-X deficiency leads to a clinically distinct form of Ehlers-Danlos syndrome, a connective tissue disorder characterized by hyperextensible skin, hypermobile joints, and tissue fragility. For further background information on EDS, see {130000}.

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

Related symptoms:

  • Autosomal recessive inheritance
  • Pica
  • Muscular hypotonia
  • Muscle weakness
  • Peripheral neuropathy


SOURCES: MESH MONDO ORPHANET OMIM GARD UMLS

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

Low match EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS; EDSKMH

This autosomal recessive form of Ehlers-Danlos syndrome is characterized by severe muscle hypotonia at birth, progressive scoliosis, joint hypermobility, hyperelastic skin, myopathy, sensorineural hearing impairment, and normal pyridinoline excretion in urine. The disorder shares many features with the kyphoscoliotic form of EDS (EDS6 ) and Ullrich congenital muscular dystrophy (OMIM ) (Baumann et al., 2012).

EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS; EDSKMH Is also known as ;eds with progressive kyphoscoliosis, myopathy, and deafness; eds with progressive kyphoscoliosis, myopathy, and hearing loss; eds, kyphoscoliotic and hearing loss type; ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness; ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss; ehlers-danlos syndrome, kyphoscoliotic and hearing loss type

Related symptoms:

  • Autosomal recessive inheritance
  • Generalized hypotonia
  • Pica
  • Hearing impairment
  • Scoliosis


SOURCES: MONDO UMLS SCTID ORPHANET OMIM

More info about EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS; EDSKMH

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

Symptoms // Phenotype % cases
Autosomal recessive inheritance Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Umbilical hernia Uncommon - Between 30% and 50% cases
Pain Uncommon - Between 30% and 50% cases
Myalgia 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


Joint hypermobility Scarring Inguinal hernia Muscular hypotonia Global developmental delay Skeletal muscle atrophy Atrophic scars Hyperextensible skin Stroke Myopathy

Rare Symptoms - Less than 30% cases


Soft skin Proximal muscle weakness Joint laxity Tetraparesis Flexion contracture Proximal amyotrophy Abnormal facial shape Motor delay Short stature Talipes equinovarus Cerebral atrophy Pica Arachnodactyly Blue sclerae Spasticity Cognitive impairment Patent ductus arteriosus Gait disturbance Encephalopathy Cardiomyopathy Arteriosclerosis Generalized muscle weakness Bruising susceptibility Bifid uvula Constipation Osteoporosis Gastroesophageal reflux Joint hyperflexibility Fatigable weakness Hepatic steatosis Hepatic failure Increased serum lactate Ventricular hypertrophy Sudden cardiac death Left ventricular hypertrophy Decreased liver function Exercise intolerance Hyperammonemia EMG: myopathic abnormalities Sensorineural hearing impairment Hypoventilation Lactic acidosis Acute hepatic failure Severe lactic acidosis Decreased plasma carnitine Generalized edema Cleft soft palate Cerebral edema Prolonged prothrombin time Microvesicular hepatic steatosis Macrovesicular hepatic steatosis Dicarboxylic aciduria Nonketotic hypoglycemia Dilated cardiomyopathy Acidosis Hypertrophic cardiomyopathy Diffuse demyelination of the cerebral white matter Urinary urgency Slurred speech Back pain Progressive encephalopathy Spastic ataxia Pseudobulbar paralysis Low back pain Pseudobulbar signs Diffuse white matter abnormalities Diffuse leukoencephalopathy Knee pain Arteriosclerosis of small cerebral arteries Hypoglycemia Failure to thrive Edema Aortic rupture High-frequency sensorineural hearing impairment Congestive heart failure Arterial rupture Thrombocytopenia Keloids Depressivity Increased lactate dehydrogenase activity Elevated hepatic transaminase Decreased activity of mitochondrial complex I Elevated creatine kinase after exercise Cerebellar hemorrhage Muscle fiber splitting Unilateral renal agenesis Rheumatoid arthritis Kyphoscoliosis Pes planus Psoriasiform dermatitis Intestinal bleeding Adrenal hypoplasia Osteopenia Hiatus hernia Adrenal hyperplasia Bicornuate uterus Precocious atherosclerosis Hyperkeratosis Spina bifida occulta Elevated serum creatine phosphokinase Myopia Epicanthus Increased connective tissue Rectal prolapse Poor wound healing Ambiguous genitalia, female Congenital adrenal hyperplasia Premature arteriosclerosis Hyperextensible thumb Quadricuspid aortic valve Hearing impairment Spina bifida Microcornea Scoliosis Poor head control Elevated plasma acylcarnitine levels Bladder diverticulum Follicular hyperkeratosis Disproportionate tall stature Difficulty climbing stairs Increased susceptibility to fractures Easy fatigability Peripheral neuropathy Severe muscular hypotonia Arrhythmia Fatigue Poor suck Arthritis Thin skin Arthralgia Cutis laxa Single transverse palmar crease Sloping forehead Hypotelorism Mania Sensory neuropathy Vesicoureteral reflux Gastrointestinal hemorrhage Waddling gait Mitral valve prolapse Ambiguous genitalia Bulbar palsy Alopecia Emotional lability Respiratory failure Abdominal wall muscle weakness Failure of eruption of permanent teeth Hypoplasia of the olfactory bulb Single naris Absent nares Abnormality of the midface Ventricular septal defect Respiratory insufficiency Atrial septal defect Respiratory distress Areflexia Recurrent respiratory infections Abnormal heart morphology Misalignment of teeth Muscular hypotonia of the trunk Abnormal cardiac septum morphology Paralysis Decreased fetal movement Recurrent pneumonia Spinal muscular atrophy 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 Hyposmia Submucous cleft hard palate Downslanted palpebral fissures Hypersomnia Excessive wrinkled skin Subcutaneous hemorrhage Growth delay Intellectual disability, severe Coarse facial features Hypothyroidism Jaundice Macroglossia Abdominal distention Large fontanelles Abnormality of the face Abnormality of the thyroid gland Ectopic thyroid External genital hypoplasia Cleft palate Cryptorchidism Cataract Blindness Microphthalmia Hypogonadism Visual loss Iris coloboma Hypoplasia of penis Gynecomastia Amblyopia Anosmia Anophthalmia High palate Frontal bossing Leukoencephalopathy Abnormal pyramidal sign Hip dysplasia Short chin Impulsivity Ataxia Nystagmus Hyperreflexia Dysarthria Hypertension Dysphagia Babinski sign Dementia Rigidity Abnormality of the cerebral white matter Tapered finger Ophthalmoplegia Unsteady gait Dysmetria Acrania Urinary incontinence Neurodegeneration Abnormality of extrapyramidal motor function Peripheral demyelination Spastic gait Hemiparesis Diplopia Ischemic stroke Poor speech Autistic behavior Brachycephaly Microcephaly Telecanthus Protruding ear Talipes Dental crowding Patent foramen ovale Adducted thumb Delayed gross motor development Bilateral talipes equinovarus Fragile skin Autosomal dominant inheritance Intellectual disability Seizures Hypertelorism Prominent nasal bridge Feeding difficulties Delayed speech and language development Wide nasal bridge Infantile onset Anteverted nares Hypoplasia of the corpus callosum Dystonia Absent speech Narrow mouth High forehead Hyperactivity Thin upper lip vermilion Anxiety Abnormal globe morphology



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