Flexion contracture, and Congenital muscular dystrophy

Diseases related with Flexion contracture and Congenital muscular dystrophy

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

Top matches:

EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL DOMINANT; EDMD4 Is also known as emery-dreifuss muscular dystrophy 4 with variable features

Related symptoms:

  • Generalized hypotonia
  • Flexion contracture
  • Motor delay
  • Talipes equinovarus
  • Elevated serum creatine phosphokinase


SOURCES: MESH OMIM MENDELIAN

More info about EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL DOMINANT; EDMD4

Related symptoms:

  • Scoliosis
  • Flexion contracture
  • High palate
  • Motor delay
  • Respiratory insufficiency


SOURCES: OMIM MENDELIAN

More info about ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD2

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

Other less relevant matches:

Congenital muscular dystrophy without intellectual disability is a rare, genetic, congenital muscular dystrophy due to dystroglycanopathy disorder characterized by a wide phenotypic spectrum which includes hypotonia and muscular weakness present at birth or early infancy, delayed or arrested motor development, and normal intellectual abilities with normal (or only mild abnormalities) neuroimaging studies. Feeding difficulties, joint and spinal deformities, and respiratory insufficiency may be associated. Decreased alpha-dystroglycan on immunohistochemical muscle staining and elevated serum creatine kinase are observed.

CONGENITAL MUSCULAR DYSTROPHY WITHOUT INTELLECTUAL DISABILITY Is also known as cmd without intellectual disability|cmd-no mr|congenital muscular dystrophy-dystroglycanopathy without intellectual disability

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Microcephaly
  • Motor delay
  • Ventriculomegaly


SOURCES: ORPHANET MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY WITHOUT INTELLECTUAL DISABILITY

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

CLASSIC MULTIMINICORE MYOPATHY Is also known as classic multiminicore disease|classic mmd

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive
  • High palate


SOURCES: ORPHANET MENDELIAN

More info about CLASSIC MULTIMINICORE MYOPATHY

MDCCAID is an autosomal recessive form of muscular dystrophy with onset of progressive muscle weakness in early childhood. Almost all patients also have early-onset cataracts, most have intellectual disability of varying severity, and some have seizures (summary by Wiessner et al., 2017 and Osborn et al., 2017).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY; MDCCAID

MDDGB6 is an autosomal recessive congenital muscular dystrophy with mental retardation and structural brain abnormalities (Longman et al., 2003). It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as 'dystroglycanopathies' (Mercuri et al., 2009).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, 6; MDDGB6 Is also known as mdc1d|muscular dystrophy, congenital, large-related|muscular dystrophy, congenital, type 1d

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Nystagmus


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6; MDDGB6

Autosomal recessive limb-girdle muscular dystrophy type 2K (LGMD2K) is a form of limb-girdle muscular dystrophy characterized by the onset of slowly progressive proximal muscle weakness during childhood (with fatigue and difficulty running and climbing stairs) and developmental delay. Mild intellectual deficit and microcephaly, without any obvious structural brain abnormality, are found in all patients. Mild pseudohypertrophy and joint contractures of the ankles have also been reported.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2K Is also known as muscular dystrophy, limb-girdle, type 2k|muscular dystrophy, limb-girdle, autosomal recessive 11|lgmd2k|limb-girdle muscular dystrophy-intellectual disability syndrome|lgmdr11

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Scoliosis
  • Muscle weakness
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2K

Autosomal recessive limb-girdle muscular dystrophy type 2I (LGMD2I) is a subtype of autosomal recessive limb-girdle muscular dystrophy that presents a highly variable age of onset and phenotypic spectrum typically characterized by slowly progressive proximal weakness of the pelvic and shoulder girdle musculature (predominantly affecting the lower limbs), frequently associated with waddling gait, scapular winging, calf and tongue hypertrophy, exercise-induced myalgia, and myoglobinuria and/or elevated creatine kinase serum levels. Abdominal muscle weakness, cardiomyopathy, respiratory muscle involvement and various brain abnormalities have also been reported.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2I Is also known as lgmdr9|lgmd2i|muscular dystrophy-dystroglycanopathy, limb-girdle, frkp-related|muscular dystrophy, limb-girdle, autosomal recessive 9|limb-girdle muscular dystrophy due to fkrp deficiency|muscular dystrophy, limb-girdle, type 2i

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Motor delay
  • Respiratory insufficiency


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2I

Top 5 symptoms//phenotypes associated to Flexion contracture and Congenital muscular dystrophy

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Muscular dystrophy Common - Between 50% and 80% cases
Motor delay Common - Between 50% and 80% cases
Elevated serum creatine phosphokinase Common - Between 50% and 80% cases
Proximal muscle weakness Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability Scoliosis Respiratory insufficiency Spinal rigidity Muscle weakness Difficulty walking Generalized amyotrophy Hyperlordosis Microcephaly Ventriculomegaly Toe walking Myalgia Abnormality of the cerebral white matter Achilles tendon contracture Cerebellar cyst Gowers sign Waddling gait Congestive heart failure Short stature Global developmental delay Kyphoscoliosis

Rare Symptoms - Less than 30% cases

Failure to thrive Cerebellar hypoplasia Thigh hypertrophy Pachygyria Frequent falls EMG: myopathic abnormalities Proximal amyotrophy Neck muscle weakness Increased variability in muscle fiber diameter Cataract Myopia Dilatation Calf muscle hypertrophy Difficulty climbing stairs Neonatal hypotonia Intellectual disability, profound Limb-girdle muscular dystrophy Decreased fetal movement Cardiomyopathy Restrictive deficit on pulmonary function testing Nocturnal hypoventilation Muscular hypotonia Skeletal muscle hypertrophy Strabismus Talipes equinovarus Macroglossia Muscle cramps Reduced muscle fiber alpha dystroglycan High palate Feeding difficulties Myopathy Severe muscular hypotonia Gait disturbance Limb muscle weakness Delayed gross motor development Skeletal muscle atrophy Poor head control Cerebellar atrophy Axial muscle weakness Facial palsy Areflexia Limb-girdle muscle weakness Myopathic facies Delayed speech and language development Mild myopia Decreased light- and dark-adapted electroretinogram amplitude Diaphragmatic weakness Abnormality of the periventricular white matter Lower limb hyperreflexia Exercise-induced myoglobinuria Abnormality of the Achilles tendon Lower limb muscle weakness Abnormality of neuronal migration Nystagmus Hypoplasia of the brainstem Abnormal electroretinogram Babinski sign Elbow flexion contracture Horizontal nystagmus Joint contracture of the hand Open mouth Respiratory distress Cough Abdominal pain Hypokinesia Respiratory failure Kyphosis Falls Triceps weakness Impaired visuospatial constructive cognition Hypoglycosylation of alpha-dystroglycan Abnormal glycosylation Type 1 muscle fiber predominance Abnormal lung morphology Scapular winging Centrally nucleated skeletal muscle fibers Restrictive ventilatory defect Dyspnea Vertebral fusion Difficulty running Shoulder girdle muscle weakness Left ventricular failure Easy fatigability Left ventricular hypertrophy Ventricular hypertrophy Lumbar hyperlordosis Dilated cardiomyopathy Pelvic girdle muscle weakness Autistic behavior Increased adipose tissue Increased muscle lipid content Increased connective tissue Limb joint contracture Dandy-Walker malformation Polymicrogyria Hydrocephalus Optic atrophy Fatty replacement of skeletal muscle Limb-girdle muscle atrophy Bilateral talipes equinovarus Facial diplegia Mildly elevated creatine phosphokinase Heterotopia Generalized muscle weakness Left ventricular septal hypertrophy Retinal dysplasia Joint hypermobility Cachexia Respiratory insufficiency due to muscle weakness EMG abnormality Myocardial infarction Limitation of joint mobility Talipes Joint hyperflexibility Abnormality of the foot Narrow chest Arrhythmia Growth delay Lissencephaly Hypoplasia of the pons Arthrogryposis multiplex congenita Weakness of facial musculature Spastic gait Progressive muscle weakness Lower limb spasticity Abnormal pyramidal sign Rigidity Hyporeflexia Hyperreflexia Cognitive impairment Spasticity Seizures Absent muscle fiber merosin Intermittent episodes of respiratory insufficiency due to muscle weakness Limited neck flexion Type II lissencephaly Right ventricular failure Muscle fiber atrophy Right ventricular hypertrophy High pitched voice Multiple joint contractures Microretrognathia Mitral valve prolapse Hip dysplasia Pes planus Mandibular prognathia Frontoparietal polymicrogyria Diffuse white matter abnormalities Reduced muscle fiber merosin


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