Flexion contracture, and Dilated cardiomyopathy

Diseases related with Flexion contracture and Dilated cardiomyopathy

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


Top matches:

Low match REDUCING BODY MYOPATHY


Reducing body myopathy (RBM) is a rare muscle disorder marked by progressive muscle weakness and the presence of characteristic inclusion bodies in affected muscle fibres.

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Flexion contracture
  • Short neck
  • Respiratory insufficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about REDUCING BODY MYOPATHY

Low match HEART-HAND SYNDROME, SLOVENIAN TYPE


Heart-hand syndrome of Slovenian type is a rare autosomal dominant form of heart-hand syndrome (see this term), first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases.

HEART-HAND SYNDROME, SLOVENIAN TYPE Is also known as atriodigital dysplasia, slovenian type|cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome

Related symptoms:

  • Muscle weakness
  • Flexion contracture
  • Brachydactyly
  • Cardiomyopathy
  • Myopathy


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about HEART-HAND SYNDROME, SLOVENIAN TYPE

Low match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2D


Autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by childhood onset of progressive proximal weakness of the shoulder and pelvic girdle muscles, resulting in difficulty walking, scapular winging, calf hypertrophy and contractures of the Achilles tendon, which lead to a tiptoe gait pattern. Cardiac and respiratory involvement is rare.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2D Is also known as duchenne-like autosomal recessive muscular dystrophy, type 2|muscular dystrophy, limb-girdle, type 2d|dmda2|alpha-sarcoglycanopathy|lgmd2d|adhalinopathy, primary|limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Flexion contracture
  • Respiratory insufficiency
  • Cardiomyopathy


SOURCES: ORPHANET OMIM MENDELIAN

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

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Other less relevant matches:

Low match MYOPATHY, CENTRONUCLEAR, 5; CNM5


Centronuclear myopathy-5 is an autosomal recessive congenital myopathy characterized by severe neonatal hypotonia with respiratory insufficiency and difficulty feeding. Some patients die in infancy, and some develop dilated cardiomyopathy. Children show severely delayed motor development (summary by Agrawal et al., 2014).For a discussion of genetic heterogeneity of centronuclear myopathy, see CNM1 (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Micrognathia
  • Flexion contracture
  • High palate
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, CENTRONUCLEAR, 5; CNM5

Low match LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 2


Lethal congenital contracture syndrome type 2 is a rare arthrogryposis syndrome characterized by multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cell degeneration, skeletal muscle atrophy (mainly in the lower limbs), presence of a markedly distended urinary bladder and absence of hydrops, pterygia and bone fractures. Other craniofacial (e.g. cleft palate, facial palsy) and ocular (e.g. anisocoria, retinal detachment) anomalies may be additionally observed. The disease is usually neonatally lethal however, survival into adolescence has been reported.

LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 2 Is also known as multiple contracture syndrome, israeli-bedouin type|lccs2|multiple contracture syndrome, israeli bedouin type a

Related symptoms:

  • Micrognathia
  • Flexion contracture
  • Myopia
  • Skeletal muscle atrophy
  • Ventricular septal defect


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 2

Low match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2M


Autosomal recessive limb-girdle muscular dystrophy type 2M (LGMD2M) is a form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2M Is also known as muscular dystrophy, limb-girdle, autosomal recessive 13|lgmdr13|muscular dystrophy, limb-girdle, type 2m|lgmd2m

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Muscle weakness
  • Muscular hypotonia
  • Flexion contracture


SOURCES: OMIM ORPHANET MESH MENDELIAN

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

Low match AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1B


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

Low match MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA; MMDS2


Multiple mitochondrial dysfunctions syndrome-2 (MMDS2) with hyperglycinemia is a severe autosomal recessive disorder characterized by developmental regression in infancy. Affected children have an encephalopathic disease course with seizures, spasticity, loss of head control, and abnormal movement. Additional more variable features include optic atrophy, cardiomyopathy, and leukodystrophy. Laboratory studies show increased serum glycine and lactate. Most patients die in childhood. The disorder represents a form of 'variant' nonketotic hyperglycinemia and is distinct from classic nonketotic hyperglycinemia (NKH, or GCE; {605899}), which is characterized by significantly increased CSF glycine. Several forms of 'variant' NKH, including MMDS2, appear to result from defects of mitochondrial lipoate biosynthesis (summary by Baker et al., 2014).For a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA; MMDS2

Low match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2I


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

Low match EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY


EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY Is also known as myopathy, early-onset, with fatal cardiomyopathy|salih myopathy|eomfc

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism
  • Muscle weakness
  • Ptosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY

Top 5 symptoms//phenotypes associated to Flexion contracture and Dilated cardiomyopathy

Symptoms // Phenotype % cases
Cardiomyopathy Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Elevated serum creatine phosphokinase Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Respiratory insufficiency Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Flexion contracture and Dilated cardiomyopathy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis Proximal muscle weakness Calf muscle hypertrophy Hyperlordosis Muscular dystrophy Difficulty climbing stairs Motor delay Waddling gait Falls Myopathy Frequent falls Limb-girdle muscular dystrophy Respiratory failure Difficulty walking Facial palsy Scapular winging Arrhythmia Difficulty running Skeletal muscle atrophy Neonatal hypotonia Congestive heart failure Gowers sign Achilles tendon contracture

Rare Symptoms - Less than 30% cases


Kyphosis Myalgia Limb-girdle muscle weakness EMG: myopathic abnormalities Left ventricular failure Congenital muscular dystrophy Limb-girdle muscle atrophy Arthrogryposis multiplex congenita Toe walking Reduced muscle fiber alpha dystroglycan Reduced muscle fiber merosin Lumbar hyperlordosis Abnormal atrioventricular conduction Centrally nucleated skeletal muscle fibers Hyporeflexia Pelvic girdle muscle weakness Ankle contracture Areflexia Limb muscle weakness Spinal rigidity Micrognathia Knee flexion contracture Seizures Ventricular septal defect Visual impairment Respiratory distress Hepatomegaly Optic atrophy Hypertrophic cardiomyopathy Myoclonus Encephalopathy Absent speech Vomiting Elbow flexion contracture Bradycardia Sick sinus syndrome Ventricular tachycardia Atrioventricular block Lipodystrophy Exertional dyspnea Abnormal echocardiogram Atrial arrhythmia Proximal lower limb amyotrophy Spasticity Proximal muscle weakness in upper limbs Paroxysmal supraventricular tachycardia Fatiguable weakness of proximal limb muscles Pelvic girdle amyotrophy Abnormal muscle fiber lamin A/C Global developmental delay Ataxia Developmental regression Macroglossia Lethargy Generalized muscle weakness Abnormality of the Achilles tendon Thigh hypertrophy Hypertelorism Ptosis Atrial septal defect Abnormal cardiac septum morphology Hip dislocation Webbed neck Nocturnal hypoventilation Radioulnar synostosis Myopathic facies Cleft soft palate Left ventricular noncompaction Abnormal levels of creatine kinase in blood Increased endomysial connective tissue Minicore myopathy Exercise-induced myoglobinuria Diaphragmatic weakness Lactic acidosis Decreased activity of the pyruvate dehydrogenase complex Epileptic encephalopathy Abnormality of extrapyramidal motor function Leukodystrophy Poor head control Malnutrition Hyperglycinemia Decreased activity of mitochondrial respiratory chain Nonketotic hyperglycinemia Restrictive deficit on pulmonary function testing Kyphoscoliosis Muscle cramps Atrial fibrillation Abnormal lung morphology Restrictive ventilatory defect Vertebral fusion Shoulder girdle muscle weakness Left ventricular hypertrophy Pectus excavatum Ventricular hypertrophy Limited shoulder movement Thoracic scoliosis Myoglobinuria Exercise-induced myalgia Abnormal myocardium morphology Tip-toe gait Calf muscle pseudohypertrophy Absent muscle fiber alpha sarcoglycan Unsteady gait High palate Narrow mouth Retrognathia Ophthalmoplegia Bifid uvula Severe muscular hypotonia Hip contracture Rhabdomyolysis Abnormal electrophysiology of sinoatrial node origin Myopia Increased variability in muscle fiber diameter Short neck Rigidity Lower limb muscle weakness Progressive muscle weakness Foot dorsiflexor weakness Respiratory insufficiency due to muscle weakness Rimmed vacuoles Distal symphalangism of hands Brachydactyly Syndactyly Clinodactyly Abnormality of the foot Upper limb muscle weakness Supraventricular arrhythmia Aplasia of the middle phalanx of the hand Axial muscle weakness Edema Syncope Hypoglycosylation of alpha-dystroglycan Skeletal muscle hypertrophy Generalized amyotrophy Motor deterioration Wolff-Parkinson-White syndrome Neck flexor weakness Abnormal glycosylation Fatty replacement of skeletal muscle Reduced tendon reflexes Moderately reduced ejection fraction Muscle fiber hypertrophy Feeding difficulties Wide nasal bridge Gait disturbance Midface retrusion Sudden cardiac death Infantile muscular hypotonia Tachycardia Polyhydramnios Fetal akinesia sequence Hydronephrosis Decreased fetal movement High myopia Pterygium Congenital contracture Akinesia Vitreoretinopathy Pes cavus Limb joint contracture Multiple pterygia Degenerative vitreoretinopathy Growth delay Muscular hypotonia Talipes equinovarus Hydrocephalus Mitochondrial depletion



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