Congestive heart failure, and Muscular dystrophy

Diseases related with Congestive heart failure and Muscular dystrophy

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


Top matches:

Medium match CARDIOMYOPATHY, DILATED, 1X; CMD1X


CARDIOMYOPATHY, DILATED, 1X; CMD1X Is also known as cardiomyopathy, dilated, with mild or no proximal muscle weakness

Related symptoms:

  • Seizures
  • Cardiomyopathy
  • Congestive heart failure
  • Elevated serum creatine phosphokinase
  • Dyspnea


SOURCES: OMIM MESH MENDELIAN

More info about CARDIOMYOPATHY, DILATED, 1X; CMD1X

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 EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT; EDMD5


Related symptoms:

  • Muscle weakness
  • Ptosis
  • Respiratory insufficiency
  • Cardiomyopathy
  • Congestive heart failure


SOURCES: OMIM MENDELIAN

More info about EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT; EDMD5

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Other less relevant matches:

Medium match CONGENITAL MUSCULAR DYSTROPHY DUE TO LMNA MUTATION


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

Medium 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

Medium match CLASSIC MULTIMINICORE MYOPATHY


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

Medium 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

Medium match X-LINKED MYOPATHY WITH POSTURAL MUSCLE ATROPHY


X-linked myopathy with postural muscle atrophy is a rare progressive muscular dystrophy characterized by an adult-onset scapulo-axio-peroneal myopathy. Clinical presentation includes shoulder girdle atrophy, scapular winging, axial muscular atrophy of postural muscles combined with a generalized hypertrophy. Typically, neck rigidity, rigid spine, Achilles tendon shortening, and respiratory insufficiency later in disease course are present.

X-LINKED MYOPATHY WITH POSTURAL MUSCLE ATROPHY Is also known as xmpma

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Pain
  • Ptosis
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED MYOPATHY WITH POSTURAL MUSCLE ATROPHY

Medium 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

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

Top 5 symptoms//phenotypes associated to Congestive heart failure and Muscular dystrophy

Symptoms // Phenotype % cases
Muscle weakness Common - Between 50% and 80% cases
Elevated serum creatine phosphokinase Common - Between 50% and 80% cases
Cardiomyopathy Common - Between 50% and 80% cases
Proximal muscle weakness Common - Between 50% and 80% cases
Dilated cardiomyopathy Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Congestive heart failure and Muscular dystrophy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Flexion contracture Congenital muscular dystrophy Calf muscle hypertrophy Scoliosis Respiratory insufficiency Generalized hypotonia Scapular winging Limb-girdle muscular dystrophy Difficulty climbing stairs Skeletal muscle atrophy Myopathy Hyperlordosis Arrhythmia Axial muscle weakness Difficulty walking Limb muscle weakness Limb-girdle muscle weakness Ptosis Waddling gait Failure to thrive Motor delay Talipes equinovarus Spinal rigidity

Rare Symptoms - Less than 30% cases


Generalized amyotrophy Poor head control Restrictive deficit on pulmonary function testing Falls Nocturnal hypoventilation Frequent falls Toe walking Arthrogryposis multiplex congenita Achilles tendon contracture Left ventricular failure Reduced muscle fiber alpha dystroglycan Decreased fetal movement Gait disturbance Limited neck flexion Muscular hypotonia Dyspnea Macroglossia Difficulty running Hypertension Ventricular hypertrophy Left ventricular hypertrophy Respiratory failure Myopathic facies Hypertelorism Scapuloperoneal weakness Skeletal muscle hypertrophy Reduced muscle fiber merosin Webbed neck Generalized muscle weakness Back pain Stiff neck Hip dislocation Abnormal cardiac septum morphology Pain Facial palsy Hypertrophic cardiomyopathy Neonatal hypotonia Dysphagia Short neck Dilatation Rimmed vacuoles Knee flexion contracture Hip flexor weakness Rigidity Dysphonia Ventricular septal defect Atrial septal defect Seizures Radioulnar synostosis Hepatic failure Tubulointerstitial fibrosis Generalized edema Esophageal varix Fetal akinesia sequence Exertional dyspnea Akinesia Portal hypertension Reduced tendon reflexes Exercise intolerance Decreased liver function Hepatic fibrosis Hydrops fetalis Sudden cardiac death Ascites Cirrhosis Centrally nucleated skeletal muscle fibers Mitochondrial depletion Ankle contracture Cleft soft palate Left ventricular noncompaction Abnormal levels of creatine kinase in blood Increased endomysial connective tissue Minicore myopathy Peripheral neuropathy Abnormality of the liver Abnormality of the Achilles tendon Hepatomegaly Edema Hyporeflexia Polyhydramnios Hepatosplenomegaly Thigh hypertrophy Delayed gross motor development Exercise-induced myoglobinuria Talipes Myoglobinuria Thoracic scoliosis Rhabdomyolysis Gowers sign EMG: myopathic abnormalities Unsteady gait Neck muscle weakness Cachexia Respiratory insufficiency due to muscle weakness Severe muscular hypotonia EMG abnormality Myocardial infarction Limitation of joint mobility Joint hyperflexibility Abnormal myocardium morphology Abnormality of the foot Narrow chest Feeding difficulties Growth delay Global developmental delay Proximal amyotrophy Triangular tongue Reduced systolic function Increased connective tissue Progressive proximal muscle weakness Progressive muscle weakness Tetraparesis Reduced ejection fraction Exercise-induced myalgia Tip-toe gait Diaphragmatic weakness Right ventricular failure Pelvic girdle muscle weakness Shoulder girdle muscle weakness Vertebral fusion Restrictive ventilatory defect Abnormal lung morphology Muscle cramps Myalgia Kyphoscoliosis Kyphosis Absent muscle fiber merosin Intermittent episodes of respiratory insufficiency due to muscle weakness Weakness of facial musculature Increased muscle lipid content Muscle fiber atrophy Calf muscle pseudohypertrophy Right ventricular hypertrophy High pitched voice Multiple joint contractures Microretrognathia Mitral valve prolapse Hip dysplasia Pes planus Mandibular prognathia High palate Short stature Absent muscle fiber alpha sarcoglycan Limited shoulder movement Limb-girdle muscle atrophy Limb joint contracture



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