Cardiomyopathy, and Talipes equinovarus

Diseases related with Cardiomyopathy and Talipes equinovarus

In the following list you will find some of the most common rare diseases related to Cardiomyopathy and Talipes equinovarus that can help you solving undiagnosed cases.


Top matches:

Medium match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2W


Autosomal recessive limb-girdle muscular dystrophy type 2W is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by childhood onset of severe, progressive, proximal skeletal muscle weakness and atrophy of the upper and lower limbs with later involvement of distal muscles and development of severe quadraparesis, calf hypertrophy, triangular tongue, and dilated cardiomyopathy. Skeletal muscles undergo diffuse, bilateral, symmetric and severe atrophy with fat infiltration.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2W Is also known as lgmd2w

Related symptoms:

  • Muscle weakness
  • Skeletal muscle atrophy
  • Talipes equinovarus
  • Cardiomyopathy
  • Elevated serum creatine phosphokinase


SOURCES: ORPHANET OMIM MENDELIAN

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

Medium match RIPPLING MUSCLE DISEASE


Rippling muscle disease is a rare, genetic, neuromuscular disorder characterized by muscle hyperirritability triggered by stretch, percussion or movement. Patients present wave-like, electrically-silent muscle contractions (rippling), muscle mounding, painful muscle stiffness and muscle hypertrophy, usually with elevated serum creatine kinase.

RIPPLING MUSCLE DISEASE Is also known as muscular dystrophy, limb-girdle, type 1c, formerly|rippling muscle disease|rmd|lgmd1c, formerly

Related symptoms:

  • Muscle weakness
  • Pain
  • Fatigue
  • Talipes equinovarus
  • Cardiomyopathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about RIPPLING MUSCLE DISEASE

Medium match NEMALINE MYOPATHY 11, AUTOSOMAL RECESSIVE; NEM11


NEM11 is an autosomal recessive congenital myopathy characterized by onset of slowly progressive muscle weakness in the first decade. Affected individuals present with gait difficulties due to proximal muscle weakness and atrophy mainly affecting the lower limbs and neck. Muscle biopsy shows nemaline bodies. Some patients may have mild cardiac or respiratory involvement, but they do not have respiratory failure (summary by Miyatake et al., 2017).For a discussion of genetic heterogeneity of nemaline myopathy, see NEM3 (OMIM ).

Related symptoms:

  • Muscle weakness
  • High palate
  • Gait disturbance
  • Dysphagia
  • Talipes equinovarus


SOURCES: OMIM MENDELIAN

More info about NEMALINE MYOPATHY 11, AUTOSOMAL RECESSIVE; NEM11

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Medium match LAING EARLY-ONSET DISTAL MYOPATHY


Laing distal myopathy, also called myopathy distal, type 1 (MPD1), is characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, and a very slowly progressive course.

LAING EARLY-ONSET DISTAL MYOPATHY Is also known as distal myopathy type 1|mpd1|gowers disease|myopathy, distal, swedish|muscular dystrophy, distal, late-onset, autosomal dominant

Related symptoms:

  • Muscle weakness
  • Myopathy
  • Proximal muscle weakness
  • Distal muscle weakness
  • Muscular dystrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about LAING EARLY-ONSET DISTAL MYOPATHY

Medium match RENAL-HEPATIC-PANCREATIC DYSPLASIA 2; RHPD2


RHPD2 is an autosomal recessive multisystemic disorder with severe abnormalities apparent in utero and often resulting in fetal death or death in infancy. The main organs affected include the kidney, liver, and pancreas, although other abnormalities, including cardiac, skeletal, and lung defects, may also be present. Affected individuals often have situs inversus. The disorder results from a defect in ciliogenesis and ciliary function, as well as in cell proliferation and epithelial morphogenesis; thus, the clinical manifestations are highly variable (summary by Grampa et al., 2016).For a discussion of genetic heterogeneity of renal-hepatic-pancreatic dysplasia, see RHPD1 (OMIM ).

Related symptoms:

  • Hepatomegaly
  • Talipes equinovarus
  • Hypertrophic cardiomyopathy
  • Pulmonic stenosis
  • Narrow chest


SOURCES: OMIM MENDELIAN

More info about RENAL-HEPATIC-PANCREATIC DYSPLASIA 2; RHPD2

Medium 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

Medium match GLYCOGEN STORAGE DISEASE IV; GSD4


GLYCOGEN STORAGE DISEASE IV; GSD4 Is also known as andersen disease|brancher deficiency|gbe1 deficiency|amylopectinosis|gsd iv|glycogen branching enzyme deficiency|cirrhosis, familial, with deposition of abnormal glycogen|glycogenosis iv

Related symptoms:

  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE IV; GSD4

Medium match CENTRAL CORE DISEASE OF MUSCLE; CCD


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

Medium match SEPTOOPTIC DYSPLASIA


Septooptic dysplasia is a clinically heterogeneous disorder loosely defined by any combination of optic nerve hypoplasia, pituitary gland hypoplasia, and midline abnormalities of the brain, including absence of the corpus callosum and septum pellucidum (Dattani et al., 1998). The diagnosis of this rare congenital anomaly is made when 2 or more features of the classic triad are present. Approximately 30% of patients have complete manifestations, 62% display hypopituitarism, and 60% have an absent septum pellucidum. The disorder is equally prevalent in males and females and is more common in infants born to younger mothers, with a reported incidence of 1 in 10,000 live births (summary by Webb and Dattani, 2010).Also see {516020.0012} for a form of septooptic dysplasia associated with cardiomyopathy and exercise intolerance.

SEPTOOPTIC DYSPLASIA Is also known as de morsier syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about SEPTOOPTIC DYSPLASIA

Medium match AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY


Autosomal recessive centronuclear myopathy (AR-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.

AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY Is also known as myopathy, centronuclear, autosomal recessive|myotubular myopathy, autosomal recessive|ar-cnm

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Talipes equinovarus

Symptoms // Phenotype % cases
Muscle weakness Common - Between 50% and 80% cases
Proximal muscle weakness Common - Between 50% and 80% cases
Myopathy Common - Between 50% and 80% cases
Muscular dystrophy Common - Between 50% and 80% cases
Limb-girdle muscular dystrophy Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Cardiomyopathy and Talipes equinovarus. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Skeletal muscle atrophy Generalized hypotonia Waddling gait Flexion contracture Scapular winging Gowers sign Pes cavus Hyperlordosis Myopathic facies Elevated serum creatine phosphokinase Calf muscle hypertrophy Hypertrophic cardiomyopathy Dilated cardiomyopathy Generalized muscle weakness Respiratory insufficiency Facial palsy Motor delay Progressive muscle weakness

Rare Symptoms - Less than 30% cases


Centrally nucleated skeletal muscle fibers Reduced tendon reflexes Hyporeflexia Muscular hypotonia Intellectual disability Spinal rigidity Growth delay Hepatic fibrosis Hepatomegaly Generalized amyotrophy Polyhydramnios Congestive heart failure Global developmental delay Talipes Neonatal hypotonia Areflexia Fever Feeding difficulties Cognitive impairment Scoliosis Seizures Type 1 muscle fiber predominance Exertional dyspnea Falls Difficulty climbing stairs Exercise intolerance Decreased fetal movement Arthrogryposis multiplex congenita Difficulty walking Ophthalmoparesis Frequent falls Dyspnea Myotonia Fatigue Myalgia Distal muscle weakness Muscle cramps Skeletal muscle hypertrophy High palate Nemaline bodies Ophthalmoplegia Pectus excavatum Lower limb muscle weakness Polydactyly Micropenis Autism Hypothyroidism Hypoglycemia Growth hormone deficiency Abnormality of the eye Severe global developmental delay Abnormality of eye movement Agenesis of corpus callosum Dehydration Heterotopia Hypocalcemia Cerebral palsy Optic nerve hypoplasia Severe short stature Visual impairment Obesity Skeletal myopathy Hip dislocation Reduced systolic function Congenital hip dislocation Increased connective tissue Progressive proximal muscle weakness Malignant hyperthermia Tetraparesis Generalized limb muscle atrophy Syndactyly Stooped posture Minicore myopathy Macroglossia Short stature Nystagmus Cryptorchidism Diabetes insipidus Hypoplasia of the corpus callosum Precocious puberty Hypopituitarism Short finger EMG: myopathic abnormalities Retrognathia Feeding difficulties in infancy Protruding ear Long face Bifid uvula Left ventricular hypertrophy Respiratory insufficiency due to muscle weakness External ophthalmoplegia Dysphonia Kyphosis Bilateral ptosis Congenital contracture Long fingers Abnormal heart valve morphology Hip contracture Difficulty running Facial diplegia Axial muscle weakness Narrow mouth Intellectual disability, mild Absent septum pellucidum Anterior pituitary hypoplasia Pes planus Severe vision loss Amniotic constriction ring Panhypopituitarism Adrenocorticotropic hormone deficiency Colpocephaly Cavum septum pellucidum Hemianopia Optic disc hypoplasia Dysarthria Ectopic posterior pituitary Septo-optic dysplasia Pituitary dwarfism Bitemporal hemianopia Decreased circulating luteinizing hormone level Decreased circulating follicle stimulating hormone level Abnormal facial shape Ptosis Delayed speech and language development Triangular tongue Irritability Kyphoscoliosis Pancreatic dysplasia Femoral bowing Enlarged kidney Truncus arteriosus Asplenia Agenesis of cerebellar vermis Cystic renal dysplasia Heterotaxy Atrioventricular block Aortic valve stenosis Poor head control Respiratory failure Hydrocephalus Dysphagia Gait disturbance Tachycardia Lumbar hyperlordosis Infantile muscular hypotonia Situs inversus totalis Hypokinesia Muscle hyperirritability Mildly elevated creatine phosphokinase Distal amyotrophy Small hand Sensory impairment Clumsiness Reduced vital capacity Fasciculations Steppage gait Rimmed vacuoles Cholestasis Autophagic vacuoles Pulmonic stenosis Narrow chest Pulmonary hypoplasia Renal cyst Renal agenesis Oligohydramnios Cardiomegaly Percussion-induced rapid rolling muscle contractions Motor deterioration Pain EMG abnormality Ascites Sudden cardiac death Hydrops fetalis Decreased liver function Toe walking Portal hypertension Akinesia Fetal akinesia sequence Cirrhosis Esophageal varix Generalized edema Tubulointerstitial fibrosis Limb joint contracture Muscle stiffness Overgrowth Cleft palate Intrauterine growth retardation Hepatic failure Limb muscle weakness Wolff-Parkinson-White syndrome Failure to thrive Neck flexor weakness Abnormal glycosylation Hypoglycosylation of alpha-dystroglycan Fatty replacement of skeletal muscle Moderately reduced ejection fraction Muscle fiber hypertrophy Reduced muscle fiber merosin Hypertension Fatigable weakness Peripheral neuropathy Edema Muscle mounding Exercise-induced muscle stiffness Exercise-induced muscle cramps Hepatosplenomegaly Exercise-induced myalgia Abnormality of the liver EMG: decremental response of compound muscle action potential to repetitive nerve stimulation



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Fever and Leukoencephalopathy, related diseases and genetic alterations Skeletal muscle atrophy and Skin rash, related diseases and genetic alterations Skeletal muscle atrophy and Elevated serum creatine phosphokinase, related diseases and genetic alterations Ptosis and Protruding ear, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more