Feeding difficulties, and Congenital muscular dystrophy

Diseases related with Feeding difficulties and Congenital muscular dystrophy

In the following list you will find some of the most common rare diseases related to Feeding difficulties and Congenital muscular dystrophy that can help you solving undiagnosed cases.

Top matches:

Congenital muscular dystrophy due to LMNA mutation is a rare congenital muscular dystrophy characterized by prominent axial hypotonia, dropped head syndrome, predominantly proximal muscle weakness in upper limbs/distal in lower limbs (with absent, poor or lost motor development), joint contractures (initially distal, later proximal), spine rigidity, and early respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have been also reported.

CONGENITAL MUSCULAR DYSTROPHY DUE TO LMNA MUTATION Is also known as mdcl|lmna-related congenital muscular dystrophy|l-cmd

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Failure to thrive
  • Muscle weakness


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY DUE TO LMNA MUTATION

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 (OMIM ), collectively known as 'dystroglycanopathies' (Godfrey et al., 2007).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6; MDDGA6 Is also known as walker-warburg syndrome or muscle-eye-brain disease, large-related

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Cataract
  • Flexion contracture
  • Feeding difficulties


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6; MDDGA6

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 (OMIM ), collectively known as 'dystroglycanopathies' (Beltran-Valero de Bernabe et al., 2004).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5; MDDGA5 Is also known as walker-warburg syndrome or muscle-eye-brain disease, fkrp-related

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Cataract
  • Feeding difficulties


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5; MDDGA5

Other less relevant matches:

CONGENITAL MUSCULAR DYSTROPHY-RESPIRATORY FAILURE-SKIN ABNORMALITIES-JOINT HYPERLAXITY SYNDROME Is also known as congenital muscular dystrophy, davignon-chauveau type

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Cryptorchidism
  • Flexion contracture


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY-RESPIRATORY FAILURE-SKIN ABNORMALITIES-JOINT HYPERLAXITY SYNDROME

MDDGB5 is an autosomal recessive congenital muscular dystrophy with mental retardation and structural brain abnormalities (Brockington et al., 2001). It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as 'dystroglycanopathies' (Mercuri et al., 2006).For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5; MDDGB5 Is also known as muscular dystrophy, congenital, fkrp-related|mdc1c|muscular dystrophy, congenital, 1c

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis
  • Flexion contracture


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5; MDDGB5

MDDGB14 is an autosomal recessive congenital muscular dystrophy characterized by severe muscle weakness apparent in infancy and mental retardation. Some patients may have additional features, such as microcephaly, cardiac dysfunction, seizures, or cerebellar hypoplasia. It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as 'dystroglycanopathies' (summary by Carss et al., 2013).For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14; MDDGB14 Is also known as muscular dystrophy, congenital, gmppb-related

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14; MDDGB14

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with congenital muscular dystrophy resulting in muscle weakness early in life and brain and eye anomalies. It is usually associated with delayed psychomotor development and shortened life expectancy. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as dystroglycanopathies (summary by Stevens et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12; MDDGA12 Is also known as walker-warburg syndrome or muscle-eye-brain disease, pomk-related

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12; MDDGA12

High match BETHLEM MYOPATHY

Bethlem myopathy is a benign autosomal dominant form of slowly progressive muscular dystrophy.

BETHLEM MYOPATHY Is also known as ullrich scleroatonic muscular dystrophy|benign autosomal dominant myopathy|ullrich disease|ullrich congenital muscular dystrophy|muscular dystrophy, scleroatonic|ucmd

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about BETHLEM MYOPATHY

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

EDMD is characterized by myopathic changes in certain skeletal muscles and early contractures at the neck, elbows, and Achilles tendons, as well as cardiac conduction defects. 'Classic' Emery-Dreifuss muscular dystrophy (EDMD1 ) is an X-linked disorder caused by mutation in the emerin gene (EMD ) on Xq28 (Emery, 1989).For a discussion of genetic heterogeneity of EDMD, see {310300}.

AUTOSOMAL DOMINANT EMERY-DREIFUSS MUSCULAR DYSTROPHY Is also known as scapuloilioperoneal atrophy with cardiopathy|emd2|muscular dystrophy, limb-girdle, type 1b, formerly|emery-dreifuss muscular dystrophy, autosomal dominant|edmd2|cardiomyopathy, dilated, with quadriceps myopathy|muscular dystrophy, proximal, type 1b, forme

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Muscular hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT EMERY-DREIFUSS MUSCULAR DYSTROPHY

Top 5 symptoms//phenotypes associated to Feeding difficulties and Congenital muscular dystrophy

Symptoms // Phenotype % cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Muscular dystrophy Very Common - Between 80% and 100% cases
Flexion contracture Very Common - Between 80% and 100% cases
Elevated serum creatine phosphokinase Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Feeding difficulties and Congenital muscular dystrophy. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Scoliosis

Uncommon Symptoms - Between 30% and 50% cases

Respiratory insufficiency Myopathy Poor head control Respiratory insufficiency due to muscle weakness Ventriculomegaly Motor delay Intellectual disability Neonatal hypotonia Severe muscular hypotonia Global developmental delay Spinal rigidity Difficulty climbing stairs Dilatation Cataract Cerebellar hypoplasia Myopia Lissencephaly Proximal amyotrophy Hyperkeratosis Pachygyria EMG: myopathic abnormalities Hydrocephalus Mildly elevated creatine phosphokinase Follicular hyperkeratosis Microcephaly Hypoplasia of the pons Kyphosis Proximal muscle weakness Facial palsy Cerebellar cyst Type II lissencephaly Abnormality of the cerebral white matter Generalized muscle weakness High palate Skeletal muscle atrophy Gait disturbance Limb muscle weakness Talipes equinovarus Muscular hypotonia Hyperlordosis

Rare Symptoms - Less than 30% cases

Cardiomyopathy Intellectual disability, mild Limb-girdle muscular dystrophy Shoulder girdle muscle weakness Increased variability in muscle fiber diameter Joint laxity Ankle contracture Progressive proximal muscle weakness Respiratory failure Pectus excavatum Difficulty walking Scarring Shoulder girdle muscle atrophy Feeding difficulties in infancy Joint stiffness Rigidity Kyphoscoliosis Frequent falls Waddling gait Toe walking Calf muscle hypertrophy Sensorineural hearing impairment Hearing impairment Torticollis Ptosis Seizures Achilles tendon contracture Multiple joint contractures Neck muscle weakness Intellectual disability, profound Severe global developmental delay Decreased fetal movement Myocardial infarction Generalized amyotrophy Abnormality of the foot Coloboma High myopia Limb-girdle muscle weakness Arrhythmia Microphthalmia EMG abnormality Hypoplasia of the brainstem Congestive heart failure Failure to thrive Growth delay Agyria Cachexia Dandy-Walker malformation Increased susceptibility to fractures Poor suck Disproportionate tall stature Atrophic scars Keloids Soft skin Cleft soft palate Bladder diverticulum Easy fatigability High-frequency sensorineural hearing impairment Arterial rupture Abnormal eye morphology Aortic rupture Hyperextensible skin Type 1 muscle fiber atrophy Cutis laxa Decreased cervical spine flexion due to contractures of posterior cervical muscles Impaired mastication Hyperextensibility at wrists Increased laxity of fingers Increased laxity of ankles Epicanthus Hernia Restricted neck movement due to contractures Patent ductus arteriosus Proximal spinal muscular atrophy Blue sclerae Inguinal hernia Osteopenia Umbilical hernia Pes planus Joint hypermobility Bruising susceptibility Microcornea Sloping forehead Hypotelorism Wide nasal bridge Heart block Midface retrusion Muscle fiber necrosis Bradycardia Elbow flexion contracture Knee flexion contracture Scapular winging Increased LDL cholesterol concentration Reduced tendon reflexes Ventricular arrhythmia Atrioventricular block Abnormal atrioventricular conduction Back pain Palpitations Supraventricular arrhythmia Lipodystrophy Spinal muscular atrophy Proximal muscle weakness in lower limbs Myotonia Distal lower limb muscle weakness Distal lower limb amyotrophy Rimmed vacuoles Sprengel anomaly Progressive muscle weakness Atrial arrhythmia Obesity Ichthyosis Pes cavus Dyspnea Vocal cord paralysis Hypertrophic cardiomyopathy Dilated cardiomyopathy Lower limb muscle weakness Proximal upper limb amyotrophy Scapuloperoneal amyotrophy Ventricular escape rhythm Vertigo Peroneal muscle atrophy Peroneal muscle weakness Falls Left anterior fascicular block Sudden cardiac death Syncope Limb-girdle muscle atrophy Atrial fibrillation Proximal muscle weakness in upper limbs Proximal lower limb amyotrophy Hypertriglyceridemia Nocturnal hypoventilation Absent speech Slender build Generalized joint laxity Recurrent respiratory infections Gastroesophageal reflux Delayed puberty Dry skin Congenital contracture Weak cry Centrally nucleated skeletal muscle fibers Overweight Pes valgus Cryptorchidism Minicore myopathy Gastrostomy tube feeding in infancy Abnormal elasticity of skin Cerebellar atrophy Myalgia Muscle cramps Macroglossia Heterotopia Delayed speech and language development Severe hydrocephalus Vertebral fusion Retinal dysplasia Narrow chest Joint hyperflexibility Talipes Limitation of joint mobility Axial muscle weakness Optic atrophy Areflexia Polymicrogyria Diffuse white matter abnormalities Cerebellar dysplasia Frontoparietal polymicrogyria Respiratory distress Hyporeflexia Corneal opacity Abnormality of skin pigmentation Retinal detachment Ventricular hypertrophy Left ventricular hypertrophy Aqueductal stenosis Delayed gross motor development Absent septum pellucidum Type 1 muscle fiber predominance Short stature Progressive microcephaly Arnold-Chiari malformation CNS hypomyelination Occipital encephalocele Hypoventilation Abnormally large globe Retinal coloboma Cortical cataract Hyperhidrosis Cerebellar vermis hypoplasia Protruding ear Camptodactyly of finger Hip dislocation Round face Growth hormone deficiency Congenital hip dislocation Abnormality of mitochondrial metabolism Recurrent lower respiratory tract infections Encephalocele Bilateral sensorineural hearing impairment Restrictive deficit on pulmonary function testing Myopathic facies Thigh hypertrophy Hypertrophy of the lower limb Nystagmus Strabismus Spasticity Intellectual disability, severe Hypertonia Abnormal heart morphology Prolonged QT interval Retinal degeneration Hypoglycosylation of alpha-dystroglycan Generalized limb muscle atrophy Ileal atresia Macrocephaly Agenesis of corpus callosum Glaucoma Reduced visual acuity Polyhydramnios Poor speech Absent muscle fiber emerin


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