Muscle weakness, and Single transverse palmar crease

Diseases related with Muscle weakness and Single transverse palmar crease

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


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Low match CONGENITAL LETHAL MYOPATHY, COMPTON-NORTH TYPE


Congenital lethal myopathy, Compton-North type is a rare, genetic, lethal, non-dystrophic congenital myopathy disorder characterized, antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, following birth, by severe neonatal hypotonia, severe generalized skeletal, bulbar and respiratory muscle weakness, multiple flexion contractures, and normal creatine kinase serum levels. Ultrastructurally, loss of integrin alpha7, beta2-syntrophin and alpha-dystrobrevin from the muscle sarcolemma and disruption of sarcomeres with disorganization of the Z band are observed.

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Flexion contracture
  • High palate


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL LETHAL MYOPATHY, COMPTON-NORTH TYPE

Low match ARTHROGRYPOSIS, DISTAL, TYPE 1A; DA1A


In general, the distal arthrogryposes are a group of disorders characterized by contractures mainly involving the distal parts of the limbs. The hands have a characteristic position with medially overlapping fingers, clenched fists, ulnar deviation of fingers, and camptodactyly, and the feet have deformities. Contractures at other joints are variable; there are no associated visceral anomalies, and intelligence is normal. Classically, DA was defined as being without overt neurologic or muscle disease (Lin et al., 1977 and Hall et al., 1982), although more recent evidence suggests that DA1A due to TPM2 mutations results from muscle dysfunction (Robinson et al., 2007; Mokbel et al., 2013; Davidson et al., 2013).The prototypic distal arthrogryposis is type 1 (DA1), which is characterized largely by camptodactyly and clubfoot. Hypoplasia and/or absence of some interphalangeal creases is common. The shoulders and hips are less frequently affected. While the pattern of affected joints is consistent, the degree to which the joints are affected is highly variable, with equinovarus deformities ranging from mild to severe and hand involvement ranging from isolated hypoplasia of the distal interphalangeal crease of the fifth digit to severely clenched fists and ulnar deviation of the wrist. The various phenotypic forms of distal arthrogryposis are classified hierarchically according to the proportion of features they share with one another and are designated DA1 through DA10 (summary by Bamshad et al., 2009).Bamshad et al. (1996) revised the classification by Hall et al. (1982) of the common mendelian arthrogryposis syndromes. Krakowiak et al. (1997) provided a useful classification of the distal arthrogryposes. Genetic Heterogeneity of Distal ArthrogryposesDistal arthrogryposis type 1 includes DA1A, caused by mutation in the TPM2 gene, and DA1B (OMIM ), caused by mutation in the MYBPC1 gene (OMIM ) on chromosome 12q23.2. Other forms include DA2A (Freeman-Sheldon syndrome, {193700}), caused by mutation in the MYH3 gene (OMIM ) on chromosome 17p13.1; DA2B (Sheldon-Hall syndrome, {601680}), caused by mutation in MYH3, the TNNT3 gene (OMIM ) on chromosome 11p15.5, the TNNI2 gene (OMIM ), also on 11p15.5, or TPM2 (OMIM ) on chromosome 9p13; DA3 (Gordon syndrome, {114300}) and DA5 (OMIM ), caused by mutation in the PIEZO2 gene (OMIM ) on chromosome 18p11; DA4 (OMIM ); DA5D (OMIM ), caused by mutation in the ECEL1 gene (OMIM ) on chromosome 2q36; DA6 (OMIM ); DA7 (OMIM ), caused by mutation in the MYH8 gene (OMIM ) on chromosome 17p13.1; DA8 (OMIM ), caused by mutation in the MYH3 gene (OMIM ) on chromosome 17p13; DA9 (OMIM ), caused by mutation in the FBN2 gene (OMIM ) on chromosome 5q23-q31; and DA10 (OMIM ), which maps to chromosome 2q.See {277720} for discussion of a possible autosomal recessive form of DA2A. See {208155} for a description of Illum syndrome, which includes 'whistling face,' central nervous system dysfunction, and calcium deposition in central nervous system and muscle.There are other forms of arthrogryposis multiplex congenita (AMC), including a lethal congenital form (see LCCS1, {253310}).

ARTHROGRYPOSIS, DISTAL, TYPE 1A; DA1A Is also known as arthrogryposis multiplex congenita, distal, type i|da1|amcd1|arthrogryposis, distal, type 1

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Cryptorchidism
  • Flexion contracture
  • Talipes equinovarus


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS, DISTAL, TYPE 1A; DA1A

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

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Other less relevant matches:

Low match SHELDON-HALL SYNDROME


Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate.

SHELDON-HALL SYNDROME Is also known as arthrogryposis multiplex congenita, distal, type ii, with craniofacial abnormalities|sheldon-hall syndrome|shs|distal arthrogryposis type 2b|fssv|arthrogryposis multiplex congenita, distal, type 2b|freeman-sheldon syndrome variant

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHELDON-HALL SYNDROME

Low match INFANTILE-ONSET X-LINKED SPINAL MUSCULAR ATROPHY


X-linked distal arthrogryposis multiplex congenital (SMAX2) is a rare form of spinal muscular atrophy characterized by the neonatal onset of severe hypotonia, areflexia, profound weakness, multiple congenital contractures, facial dysmorphic features (myopathic face with open, tent-shaped mouth), cryptorchidism, and mild skeletal abnormalities (i.e. kyphosis, scoliosis), that is often preceded by polyhydramnios and reduced fetal movements in utero and followed by bone fractures shortly after birth. SMAX2 patients often have a limited life span, often succumbing to the disease within 2 years, as muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure.

INFANTILE-ONSET X-LINKED SPINAL MUSCULAR ATROPHY Is also known as smax2|amc, distal, x-linked|arthrogryposis, x-linked, type i|spinal muscular atrophy, infantile x-linked|x-linked spinal muscular atrophy type 2|spinal muscular atrophy, x-linked lethal infantile|spinal muscular atrophy with arthrogryposis|x-linked distal

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Micrognathia
  • Strabismus


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about INFANTILE-ONSET X-LINKED SPINAL MUSCULAR ATROPHY

Low match PLAA-ASSOCIATED NEURODEVELOPMENTAL DISORDER


NDMSBA is an autosomal recessive neurodevelopmental disorder characterized by infantile onset of progressive microcephaly and spasticity and severe global developmental delay resulting in profound mental retardation and severely impaired or absent motor function. More variable features include seizures and optic atrophy. Brain imaging may show myelinating abnormalities and white matter lesions consistent with a leukoencephalopathy, as well as structural anomalies, including thin corpus callosum, gyral abnormalities, and cerebral or cerebellar atrophy. Some patients die in early childhood (summary by Falik Zaccai et al., 2017 and Hall et al., 2017).

PLAA-ASSOCIATED NEURODEVELOPMENTAL DISORDER Is also known as plaand

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PLAA-ASSOCIATED NEURODEVELOPMENTAL DISORDER

Low match ANDERSEN-TAWIL SYNDROME


Andersen's syndrome (AS) is a rare disorder characterized by periodic muscle paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly and syndactyly.

ANDERSEN-TAWIL SYNDROME Is also known as andersen syndrome|long qt syndrome type 7|lqt7

Related symptoms:

  • Short stature
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: ORPHANET MENDELIAN

More info about ANDERSEN-TAWIL SYNDROME

Low match ALLAN-HERNDON-DUDLEY SYNDROME


Allan-Herndon-Dudley syndrome (AHDS) is an X-linked intellectual disability syndrome with neuromuscular involvement characterized by infantile hypotonia, muscular hypoplasia, spastic paraparesis with dystonic/athetoic movements, and severe cognitive deficiency.

ALLAN-HERNDON-DUDLEY SYNDROME Is also known as x-linked intellectual disability-hypotonia syndrome|t3 resistance|allan-herndon syndrome|triiodothyronine resistance|monocarboxylate transporter 8 deficiency|mct8 deficiency|mental retardation and muscular atrophy|mental retardation, x-linked, with hypoto

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ALLAN-HERNDON-DUDLEY SYNDROME

Low match CONGENITAL MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA


Multiminicore disease (MMD) is an inherited neuromuscular disorder defined pathologically by the presence of multiple areas of reduced mitochondrial oxidative activity running along a limited extent of the longitudinal axis of the muscle fiber, so-called 'minicores.' These regions show sarcomere disorganization and mitochondria depletion. Typically, no dystrophic signs, such as muscle fiber necrosis or regeneration or significant endomysial fibrosis, are present. MMD is a pathologic diagnosis and shows clinical and genetic heterogeneity. Affected individuals have clinical features of a congenital myopathy, including neonatal hypotonia, delayed motor development, and generalized muscle weakness and amyotrophy, which may progress slowly or remain stable (Ferreiro and Fardeau, 2002).Patients with recessive mutations in the RYR1 gene typically show severe congenital muscular dystrophy with ophthalmoplegia, although there is phenotypic variability. Some patients may present in utero with fetal akinesia, arthrogryposis, and lung hypoplasia resulting in fetal or perinatal death (McKie et al., 2014). Skeletal muscle biopsy of patients with recessive RYR1 mutations show variable features, including central cores (Jungbluth et al., 2007), congenital fiber-type disproportion (CFTD) (Monnier et al., 2009), and centronuclear myopathy (Wilmshurst et al., 2010).

CONGENITAL MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA Is also known as minicore myopathy|multicore myopathy|multiminicore disease with external ophthalmoplegia|multiminicore myopathy multicore myopathy with external ophthalmoplegia

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA

Low match NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE; SCN4


Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE; SCN4

Top 5 symptoms//phenotypes associated to Muscle weakness and Single transverse palmar crease

Symptoms // Phenotype % cases
Flexion contracture Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
High palate Uncommon - Between 30% and 50% cases
Feeding difficulties Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Muscle weakness and Single transverse palmar crease. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Arthrogryposis multiplex congenita Kyphosis Cryptorchidism Respiratory insufficiency Ptosis Bilateral single transverse palmar creases Joint laxity Muscular hypotonia Hypertelorism Myopathy Skeletal muscle atrophy Micrognathia Dolichocephaly Short neck Distal arthrogryposis Clinodactyly Wide nasal bridge Long philtrum Camptodactyly of finger Malar flattening Joint stiffness Rocker bottom foot Adducted thumb Hernia Narrow face Tented upper lip vermilion Pneumonia Abnormality of the foot Facial palsy Areflexia Neonatal hypotonia Camptodactyly Microcephaly Global developmental delay Cleft palate Decreased fetal movement Low-set ears Abnormal facial shape Myopathic facies Growth delay Overlapping fingers Talipes equinovarus

Rare Symptoms - Less than 30% cases


Increased connective tissue Downslanted palpebral fissures Elevated serum creatine phosphokinase Central hypotonia Long fingers Short stature Spasticity Hearing impairment Posteriorly rotated ears Seizures Kyphoscoliosis Micropenis Nystagmus Intellectual disability Respiratory distress Recurrent respiratory infections Failure to thrive in infancy Edema Open mouth Interphalangeal joint contracture of finger Macrotia Short nose Protruding ear Gait disturbance Cognitive impairment Pectus carinatum Severe global developmental delay Multiple joint contractures Congenital contracture Webbed neck Triangular face Prominent nasal bridge Generalized muscle weakness Failure to thrive Calcaneovalgus deformity Akinesia Motor delay Arrhythmia Metatarsus adductus Talipes Hip dislocation Narrow mouth Fetal akinesia sequence Ulnar deviation of the wrist Congenital hip dislocation Trismus Feeding difficulties in infancy Proximal muscle weakness Arachnodactyly Polyhydramnios Unilateral renal agenesis Poor suck Respiratory insufficiency due to muscle weakness Joint contracture of the hand Ulnar deviation of the hand or of fingers of the hand High, narrow palate Clinodactyly of the 5th toe Aphasia Effort-induced polymorphic ventricular tachycardias Short digit Biparietal narrowing Periodic hypokalemic paresis Generalized amyotrophy Bowel incontinence Short mandibular rami Abnormality of the neck Hyperactive deep tendon reflexes Hypoplasia of the zygomatic bone Macroorchidism First degree atrioventricular block Athetosis Delayed CNS myelination Delayed eruption of permanent teeth Hypoplasia of the musculature Periodic paralysis Rotary nystagmus Increased thyroid-stimulating hormone level Prominent antihelix Abnormal conjugate eye movement Stahl ear Abnormal T-wave Hallux valgus Inability to walk CNS hypomyelination Irritability Upslanted palpebral fissure Proptosis Hypothyroidism Pes planus Abnormality of the nervous system Involuntary movements Choreoathetosis Abnormality of the pinna Hyporeflexia Spastic tetraplegia Narrow forehead Cerebral calcification Increased serum lactate Spastic paraplegia Abnormality of movement Paraplegia Long face Babinski sign Pectus excavatum Poor head control Muscle stiffness Drooling Tetraplegia Intellectual disability, progressive Type I diabetes mellitus Muscle fiber tubular inclusions Antegonial notching of mandible Bidirectional ventricular ectopy Prominent frontal sinuses Absent speech Aplasia/Hypoplasia of the maxilla Ataxia Clonus Leukodystrophy Hyperreflexia Dysarthria Intellectual disability, severe Dystonia Urinary incontinence Shoulder girdle muscle weakness Underfolded superior helices Hydronephrosis Pulmonary arterial hypertension Renal agenesis Asthma Sepsis Tapered finger Neutropenia Pulmonic stenosis Hepatosplenomegaly Mitral regurgitation Patent ductus arteriosus Thrombocytopenia Midface retrusion Recurrent infections Splenomegaly Atrial septal defect Hepatomegaly Hypertension Sparse scalp hair Broad thumb Sensorineural hearing impairment Prominent superficial veins Neonatal sepsis Intermittent thrombocytopenia Monocytosis Erythroid hypoplasia Congenital neutropenia Giant platelets Hypoplasia of the thymus Varicose veins Bronchiectasis Premature loss of teeth Abnormality of lipid metabolism Iron deficiency anemia Cutis laxa Leukopenia Plagiocephaly Recurrent bacterial infections Lymphopenia Anemia Type 1 and type 2 muscle fiber minicore regions Respiratory failure Scrotal hypoplasia Centrally nucleated skeletal muscle fibers Cystic hygroma Increased variability in muscle fiber diameter Bilateral cryptorchidism Mask-like facies Congenital muscular dystrophy Pterygium External ophthalmoplegia Severe postnatal growth retardation Bradycardia Hydrops fetalis Cyanosis Aciduria Pulmonary hypoplasia Ophthalmoplegia Muscular dystrophy Respiratory tract infection Difficulty running Bell-shaped thorax Abnormal muscle morphology Functional respiratory abnormality Sternocleidomastoid amyotrophy Frog-leg posture Tibialis atrophy Rectus femoris muscle atrophy Muscle fiber hypertrophy Internally nucleated skeletal muscle fibers Type 1 muscle fiber atrophy Minicore myopathy Generalized limb muscle atrophy Facial diplegia Muscle fiber necrosis Increased nuchal translucency 3-Methylglutaconic aciduria Axial muscle weakness Exercise-induced myalgia Type 1 muscle fiber predominance Torsade de pointes Nemaline bodies Abnormal atrioventricular conduction Hypomimic face T-wave inversion Ambiguous genitalia, female Facial asymmetry Cleft lip Mandibular prognathia Severe short stature Epicanthus Quadricuspid aortic valve Premature arteriosclerosis Congenital adrenal hyperplasia Narrow palpebral fissure Arteriosclerosis Rectal prolapse Poor wound healing Muscle fiber splitting Precocious atherosclerosis Bicornuate uterus Proximal amyotrophy Short chin Mildly elevated creatine phosphokinase Hiatus hernia Strabismus Abnormality of the fingernails Hypoplasia of penis Wide intermamillary distance Narrow chest Inguinal hernia Hypospadias Abnormality of metabolism/homeostasis Absent phalangeal crease Vertebral segmentation defect Round ear Prominent nasolabial fold Aplasia/Hypoplasia of the radius Ulnar deviation of finger Abnormality of the hip bone Tarsal synostosis Abnormality of the ear Adrenal hyperplasia Adrenal hypoplasia Spinal muscular atrophy Hand clenching Arthralgia Fatigue Peripheral neuropathy Pain Stiff shoulders Absent distal interphalangeal creases Decreased hip abduction Spinal canal stenosis Arthritis Hip contracture Bilateral talipes equinovarus Knee flexion contracture Elbow flexion contracture Oval face Scaphocephaly Small for gestational age Myalgia Scarring Soft skin Ambiguous genitalia Atrophic scars Psoriasiform dermatitis Rheumatoid arthritis Hyperextensible skin Spina bifida occulta Spina bifida Thin skin Mitral valve prolapse Stroke Gastrointestinal hemorrhage Vesicoureteral reflux Bifid uvula Sensory neuropathy Bruising susceptibility Joint hypermobility Joint hyperflexibility Severe muscular hypotonia Proximal placement of thumb Left bundle branch block Short palm Short metacarpal Syncope Sudden cardiac death Broad nasal tip Hypoplasia of the maxilla Small hand Wide nose Bulbous nose Specific learning disability Thin vermilion border Limb muscle weakness Toe syndactyly Dilated cardiomyopathy Broad forehead Thin upper lip vermilion Retrognathia Febrile seizures Palpitations Depressivity Growth abnormality Ventricular extrasystoles Short finger Prolonged QT interval Right bundle branch block 2-3 toe syndactyly Myotonia Short metatarsal Ventricular arrhythmia Hypoplasia of dental enamel Oligodontia Reduced tendon reflexes Abnormal palate morphology Ventricular tachycardia Scapular winging Cardiac arrest Short phalanx of finger Clinodactyly of the 5th finger Syndactyly Thickened nuchal skin fold Ventriculomegaly Rigidity Polydactyly Cerebral cortical atrophy Hyperhidrosis Hypertonia Cerebellar atrophy Hypoplasia of the corpus callosum Dysphagia Apnea Optic atrophy Delayed speech and language development Proximal spinal muscular atrophy Skin dimples Microphallus Degeneration of anterior horn cells Tongue fasciculations Muscular hypotonia of the trunk Smooth philtrum Brachydactyly Spastic tetraparesis Progressive leukoencephalopathy Contractures of the large joints Exaggerated startle response Central apnea Bulbar palsy Progressive spasticity Leukoencephalopathy Progressive microcephaly Hirsutism Hypertrichosis Tetraparesis Hypsarrhythmia Intellectual disability, profound Abnormality of extrapyramidal motor function Delayed myelination Postaxial polydactyly Cor triatriatum



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