Feeding difficulties, and Muscular dystrophy

Diseases related with Feeding difficulties and Muscular dystrophy

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

Top matches:

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14; MDDGA14 Is also known as walker-warburg syndrome or muscle-eye-brain disease, gmppb-related

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Ataxia
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14; MDDGA14

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

Other less relevant matches:

X-linked myopathy with excessive autophagy (XMEA) is an X-linked recessive skeletal muscle disorder characterized by childhood onset of progressive muscle weakness and atrophy primarily affecting the proximal muscles. While onset is usually in childhood, it can range from infancy to adulthood. Many patients lose ambulation and become wheelchair-bound. Other organ systems, including the heart, are clinically unaffected. Muscle biopsy shows intracytoplasmic autophagic vacuoles with sarcolemmal features and a multilayered basal membrane (summary by Ramachandran et al., 2013; Kurashige et al., 2013, and Ruggieri et al., 2015).Danon disease (OMIM ), caused by mutation in the LAMP2 gene (OMIM ) on chromosome Xq24, is a distinct disorder with similar pathologic features.

MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY; MEAX Is also known as xmea

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY; MEAX

Autosomal dominant limb-girdle muscular dystrophy type 1B (LGMD1B) is a subtype of autosomal dominant limb girdle muscular dystrophy characterized by a variable age of onset of progressive shoulder and hip girdle weakness, with inferior limbs usually being affected prior to upper limbs, and mild joint contractures. LGMD1B is also associated with cardiac dysrhythmias, including atrioventricular conduction blocks, and late-onset dilated cardiomyopathy, that may lead to sudden death.

AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1B Is also known as lgmd1b|limb-girdle muscular dystrophy due to lamin a/c deficiency

Related symptoms:

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


SOURCES: ORPHANET MESH MENDELIAN

More info about AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1B

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

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

Typical central core disease is a relatively mild congenital myopathy, usually characterized by motor developmental delay and signs of mild proximal weakness most pronounced in the hip girdle musculature. Orthopedic complications, particularly congenital dislocation of the hips and scoliosis, are common, and CCD patients are at risk of having malignant hyperthermia (MHS1 ). Onset of CCD is usually in childhood, although adult onset has also been reported, illustrating phenotypic variability (Jungbluth et al., 2009). Some patients can present in utero or at birth with severe congenital myopathy (Bharucha-Goebel et al., 2013).

CENTRAL CORE DISEASE OF MUSCLE; CCD Is also known as cco

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about CENTRAL CORE DISEASE OF MUSCLE; CCD

EMARDD is a congenital myopathy characterized by proximal and generalized muscle weakness, respiratory difficulties, joint contractures, and scoliosis. More variable features include cleft palate and feeding difficulties. There is variable severity: some patients become ventilator-dependent, never achieve walking, and die in childhood, whereas others have a longer and more favorable course (summary by Logan et al., 2011 and Boyden et al., 2012).

EARLY-ONSET MYOPATHY-AREFLEXIA-RESPIRATORY DISTRESS-DYSPHAGIA SYNDROME Is also known as emardd

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET MYOPATHY-AREFLEXIA-RESPIRATORY DISTRESS-DYSPHAGIA 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

Top 5 symptoms//phenotypes associated to Feeding difficulties and Muscular dystrophy

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

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Respiratory insufficiency

Uncommon Symptoms - Between 30% and 50% cases

Motor delay

Common Symptoms - More than 50% cases

Neonatal hypotonia

Uncommon Symptoms - Between 30% and 50% cases

Scoliosis Severe muscular hypotonia Congenital muscular dystrophy Myopathy Proximal muscle weakness Skeletal muscle atrophy Generalized muscle weakness Hypoplasia of the pons Decreased fetal movement Facial palsy Poor head control Ventricular hypertrophy Spinal rigidity Limb-girdle muscle weakness Intellectual disability Left ventricular hypertrophy Ventriculomegaly Difficulty climbing stairs Dilatation High palate Difficulty running Areflexia Abnormality of the cerebral white matter Cerebellar cyst Seizures EMG: myopathic abnormalities Cleft palate Cerebellar hypoplasia Talipes equinovarus Limb muscle weakness Hyperlordosis

Rare Symptoms - Less than 30% cases

Limb-girdle muscular dystrophy Growth delay Kyphoscoliosis Myalgia Hypertrophic cardiomyopathy Difficulty walking Muscle cramps Microcephaly Achilles tendon contracture Calf muscle hypertrophy Lissencephaly Minicore myopathy Centrally nucleated skeletal muscle fibers Respiratory distress Hyporeflexia Gastroesophageal reflux Respiratory failure Pectus excavatum Pachygyria Type II lissencephaly Talipes Intellectual disability, profound Arrhythmia Dandy-Walker malformation Failure to thrive Cataract Myopia Muscular hypotonia Neck muscle weakness Gait disturbance Hydrocephalus Respiratory insufficiency due to muscle weakness Generalized joint laxity Pes valgus Vertebral fusion Gastrostomy tube feeding in infancy Toe walking Abnormal elasticity of skin Overweight Cognitive impairment Fever Intrauterine growth retardation Fatigue Follicular hyperkeratosis Mildly elevated creatine phosphokinase Absent septum pellucidum Shoulder girdle muscle weakness Delayed speech and language development Thigh hypertrophy Shoulder girdle muscle atrophy Recurrent respiratory infections Restrictive deficit on pulmonary function testing Hyperkeratosis Joint laxity Weak cry Delayed puberty Proximal amyotrophy Dry skin Congenital contracture Increased variability in muscle fiber diameter Multiple joint contractures Polyhydramnios Cardiomyopathy Arthrogryposis multiplex congenita Pes planus Respiratory arrest Restrictive ventilatory defect Long fingers Bulbar palsy Increased connective tissue Diaphragmatic paralysis Frequent falls Increased endomysial connective tissue Recurrent pneumonia Cerebellar atrophy Intellectual disability, mild Kyphosis Feeding difficulties in infancy Heterotopia Macroglossia Nasal speech Camptodactyly of finger Delayed gross motor development Type 1 muscle fiber predominance Hip dislocation Congenital hip dislocation Ophthalmoparesis Myopathic facies Malignant hyperthermia Nemaline bodies Skeletal myopathy Paralysis Generalized limb muscle atrophy Stooped posture Dysphagia Severe hydrocephalus Encephalopathy Respiratory tract infection Cryptorchidism Pelvic girdle amyotrophy Agyria Gowers sign Lethargy Lower limb muscle weakness Absent speech Hypertonia Intellectual disability, severe Progressive muscle weakness Myotonia Elevated hepatic transaminase Bundle branch block Right bundle branch block Sensorineural hearing impairment Hypoventilation Progressive proximal muscle weakness Proximal muscle weakness in lower limbs Autophagic vacuoles Distal muscle weakness Inability to walk Ataxia Generalized amyotrophy Joint hyperflexibility Myocardial infarction EMG abnormality Abnormality of the foot Cachexia Narrow chest Axial muscle weakness Oligohydramnios Congestive heart failure Optic atrophy Polymicrogyria Retinal dysplasia Diffuse white matter abnormalities Frontoparietal polymicrogyria Hypoglycosylation of alpha-dystroglycan Limited extraocular movements Wide nasal bridge Cerebellar dysplasia Microphthalmia Proximal muscle weakness in upper limbs Limb-girdle muscle atrophy Paroxysmal supraventricular tachycardia Fatiguable weakness of proximal limb muscles Limitation of joint mobility Abnormal muscle fiber lamin A/C Coloboma Sick sinus syndrome Corneal opacity Severe global developmental delay Abnormality of skin pigmentation Retinal detachment High myopia Hypoplasia of the brainstem Aqueductal stenosis Proximal lower limb amyotrophy Atrial arrhythmia Midface retrusion Knee flexion contracture Dilated cardiomyopathy Sudden cardiac death Syncope Waddling gait Atrial fibrillation Bradycardia Elbow flexion contracture Ventricular tachycardia Abnormal echocardiogram Hearing impairment Atrioventricular block Lipodystrophy Exertional dyspnea Ankle contracture Pelvic girdle muscle weakness Abnormal atrioventricular conduction Hypertrophy of the lower limb


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Aggressive behavior, related diseases and genetic alterations