Cardiomyopathy, and Facial palsy

Diseases related with Cardiomyopathy and Facial palsy

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


Top matches:

Low match DISTAL MYOPATHY WITH POSTERIOR LEG AND ANTERIOR HAND INVOLVEMENT


Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs.

DISTAL MYOPATHY WITH POSTERIOR LEG AND ANTERIOR HAND INVOLVEMENT Is also known as distal abd-filaminopathy|williams distal myopathy

Related symptoms:

  • Muscle weakness
  • Pain
  • Gait disturbance
  • Dysphagia
  • Cardiomyopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about DISTAL MYOPATHY WITH POSTERIOR LEG AND ANTERIOR HAND INVOLVEMENT

Low match MYASTHENIC SYNDROME, CONGENITAL, 12; CMS12


Congenital myasthenic syndrome-12 is an autosomal recessive neuromuscular disorder characterized by onset of proximal muscle weakness in the first decade. EMG classically shows a decremental response to repeated nerve stimulation. Affected individuals show a favorable response to acetylcholinesterase (AChE) inhibitors (summary by Senderek et al., 2011).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

MYASTHENIC SYNDROME, CONGENITAL, 12; CMS12 Is also known as myasthenic syndrome, congenital, with tubular aggregates 1|cmsta1

Related symptoms:

  • Muscle weakness
  • Ptosis
  • Motor delay
  • Cardiomyopathy
  • Myopathy


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 12; CMS12

Low match DESMINOPATHY


Desminopathy is a rare genetic skeletal muscle disease characterized by abnormal chimeric aggregates of desmin and other cytoskeletal proteins and granulofilamentous material at the ultrastructural level in muscle biopsies and variable clinical/ myopathological features, age of disease onset and rate of disease progression. Patients present with bilateral skeletal muscle weakness that starts in distal leg muscles and spreads proximally, sometimes involving trunk, neck flexors and facial muscles and often cardiomyopathy manifested by conduction blocks, arrhythmias, chronic heart failure, and sometimes tachyarrhythmia. Weakness eventually leads to wheelchair dependence. Respiratory insufficiency can be a major cause of disability and death, beginning with nocturnal hyperventilation with oxygen desaturation and progressing to daytime respiratory failure.

DESMINOPATHY Is also known as desmin-related myofibrillar myopathy

Related symptoms:

  • Cardiomyopathy
  • Diarrhea
  • Arrhythmia
  • Constipation
  • Proximal muscle weakness


SOURCES: ORPHANET MENDELIAN

More info about DESMINOPATHY

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Other less relevant matches:

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


Autosomal recessive limb-girdle muscular dystrophy type 2F (LGMD2F) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable age of onset of progressive weakness and wasting of the proximal skeletal muscles of the shoulder and pelvic girdles, frequently associated with progressive respiratory muscle impairment and cardiomyopathy. Calf hypertrophy, muscle cramps and elevated serum creatine kinase levels are also observed. Neuropsychomotor development is usually normal.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2F Is also known as delta-sarcoglycanopathy|limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency|lgmd2f|muscular dystrophy, limb-girdle, type 2f

Related symptoms:

  • Respiratory insufficiency
  • Elevated serum creatine phosphokinase
  • Difficulty walking
  • Proximal muscle weakness
  • Myalgia


SOURCES: OMIM MESH ORPHANET MENDELIAN

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

Low match MYOPATHY, DISTAL, 1; MPD1


MYOPATHY, DISTAL, 1; MPD1 Is also known as myopathy, late distal hereditary|laing distal myopathy|myopathy, distal, early-onset, autosomal dominant

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • High palate
  • Tremor
  • Gait disturbance


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, DISTAL, 1; MPD1

Low match GNE MYOPATHY


GNE myopathy is a rare autosomal recessive distal myopathy characterized by early adult-onset, slowly to moderately progressive distal muscle weakness that preferentially affects the tibialis anterior muscle and that usually spares the quadriceps femoris. Muscle biopsy reveals presence of rimmed vacuoles.

GNE MYOPATHY Is also known as nonaka myopathy|ibm2|distal myopathy, nonaka type|hibm2|dmrv|distal myopathy with rimmed vacuoles|hereditary inclusion body myopathy type 2|quadriceps-sparing myopathy|inclusion body myopathy type 2

Related symptoms:

  • Muscle weakness
  • Skeletal muscle atrophy
  • Cardiomyopathy
  • Myopathy
  • Elevated serum creatine phosphokinase


SOURCES: ORPHANET OMIM MENDELIAN

More info about GNE MYOPATHY

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


Autosomal recessive limb-girdle muscular dystrophy type 2L (LGMD2L) is a form of limb-girdle muscular dystrophy most often characterized by an adult onset (but ranging from 11 to 51 years) of mainly proximal lower limb weakness, with difficulties standing on tiptoes being one of the initial signs. Proximal upper limb and distal lower limb weakness is also common, as well as atrophy of the quadriceps (most commonly), biceps brachii, and lower leg muscles. Calf hypertrophy has also been reported in some cases. LGMD2L progresses slowly, with most patients remaining ambulatory until late adulthood.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2L Is also known as lgmd2l|muscular dystrophy, limb-girdle, type 2l

Related symptoms:

  • Pain
  • Flexion contracture
  • Cardiomyopathy
  • Myopathy
  • Elevated serum creatine phosphokinase


SOURCES: MESH ORPHANET OMIM MENDELIAN

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

Low match AGEL AMYLOIDOSIS


AGel amyloidosis is a rare, systemic amyloidosis characterized by a triad of ophthalmologic, neurologic and dermatologic findings due to the deposition of gelsolin amyloid fibrils in these tissues. Clinical manifestations include corneal lattice dystrophy, cranial neuropathy, especially affecting the facial nerve, bulbar signs, cutis laxa, increased skin fragility, and less commonly peripheral neuropathy and renal failure.

AGEL AMYLOIDOSIS Is also known as amyloid cranial neuropathy with lattice corneal dystrophy|amyloidosis, meretoja type|amyloidosis due to mutant gelsolin|amyloidosis v|familial amyloidosis, finnish type|gelsolin amyloidosis|familial amyloid polyneuropathy type iv|hereditary amyloidosis, f

Related symptoms:

  • Cataract
  • Ptosis
  • Peripheral neuropathy
  • Cardiomyopathy
  • Renal insufficiency


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AGEL AMYLOIDOSIS

Low 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

Low match MEGACONIAL CONGENITAL MUSCULAR DYSTROPHY


Megaconial-type congenital muscular dystrophy is an autosomal recessive disorder characterized by early-onset muscle wasting and mental retardation. Some patients develop fatal cardiomyopathy. Muscle biopsy shows peculiar enlarged mitochondria that are prevalent toward the periphery of the fibers but are sparse in the center (summary by Mitsuhashi et al., 2011).

MEGACONIAL CONGENITAL MUSCULAR DYSTROPHY Is also known as muscular dystrophy, congenital, with mitochondrial structural abnormalities|congenital megaconial myopathy|congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect|congenital muscular dystrophy with mitochondrial structural abnormaliti

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MEGACONIAL CONGENITAL MUSCULAR DYSTROPHY

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Facial palsy

Symptoms // Phenotype % cases
Proximal muscle weakness Common - Between 50% and 80% cases
Myopathy Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Elevated serum creatine phosphokinase Common - Between 50% and 80% cases
Mildly elevated creatine phosphokinase Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cardiomyopathy and Facial palsy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Dilated cardiomyopathy Gowers sign Myalgia Scapular winging Muscular dystrophy Neck muscle weakness Waddling gait Calf muscle hypertrophy EMG: myopathic abnormalities Distal muscle weakness Gait disturbance Rimmed vacuoles Increased variability in muscle fiber diameter

Rare Symptoms - Less than 30% cases


Frequent falls Atrioventricular block Bulbar palsy Respiratory insufficiency Poor speech Falls Lower limb muscle weakness Fatty replacement of skeletal muscle Skeletal muscle atrophy Limb-girdle muscular dystrophy High palate Pain Pes cavus EMG: neuropathic changes Shoulder girdle muscle weakness Weakness of long finger extensor muscles Lower limb amyotrophy Hypertrophic cardiomyopathy Proximal amyotrophy Hyporeflexia Dysphagia Abnormality of the calf musculature Ptosis Ophthalmoplegia Motor delay Neonatal hypotonia Peripheral neuropathy Cutis laxa Abnormal autonomic nervous system physiology Palpitations Nephrotic syndrome Hypotension Polyneuropathy Everted lower lip vermilion Congenital muscular dystrophy Corneal opacity Paralysis Proteinuria Glaucoma Difficulty standing Renal insufficiency Cataract Corneal dystrophy Internally nucleated skeletal muscle fibers EMG: myotonic runs EMG: axonal abnormality Quadriceps muscle atrophy Pelvic girdle muscle atrophy Flexion contracture of finger Hamstring contractures Upper limb amyotrophy Increased endomysial connective tissue Proximal muscle weakness in upper limbs Abnormality of muscle fibers Wrist flexion contracture Muscle fiber atrophy Pelvic girdle muscle weakness Infantile muscular hypotonia Orthostatic hypotension Hyperactivity Progressive muscle weakness Intellectual disability, mild Atrial septal defect Delayed speech and language development Microcephaly Generalized hypotonia Global developmental delay Seizures Intellectual disability Reduced vital capacity Nemaline bodies Attention deficit hyperactivity disorder Hypokinesia Myopathic facies Poor head control Generalized muscle weakness Amyloidosis Respiratory failure Ichthyosis Pectus excavatum Talipes equinovarus Generalized amyloid deposition Bilateral facial palsy Cardiac amyloidosis Lattice corneal dystrophy Mild proteinuria Facial paralysis Bulbar signs Muscle fiber splitting Abnormality of abdomen morphology Mitral valve prolapse Proximal muscle weakness in lower limbs Genu recurvatum Increased connective tissue EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Scoliosis Absent muscle fiber delta sarcoglycan Proximal upper limb amyotrophy Generalized limb muscle atrophy Proximal lower limb amyotrophy Shuffling gait Limb-girdle muscle weakness Toe walking Muscle cramps Easy fatigability Ophthalmoparesis Ventricular hypertrophy Fatigable weakness Difficulty walking Trifascicular block Tremor Diarrhea Atrial fibrillation Ventricular tachycardia Respiratory insufficiency due to muscle weakness Constipation Arrhythmia Right bundle branch block Left bundle branch block Restrictive heart failure Skeletal myopathy Right ventricular cardiomyopathy Hyporeflexia of lower limbs Abnormal levels of creatine kinase in blood Left anterior fascicular block Late-onset proximal muscle weakness Hyperlordosis Ragged-red muscle fibers Exercise-induced myalgia Tibialis muscle weakness Distal lower limb muscle weakness Sudden cardiac death Myoglobinuria Ankle contracture Elbow flexion contracture Limb muscle weakness Flexion contracture Abnormality of the right hemidiaphragm EMG: myotonic discharges EMG: positive sharp waves Abnormality of the foot musculature Muscle fiber inclusion bodies Hip flexor weakness Limited wrist extension Quadriceps muscle weakness Type 1 muscle fiber predominance Hypothyroidism Abnormality of the mitochondrion Left atrial enlargement Amyotrophy of ankle musculature Toe extensor amyotrophy Thenar muscle weakness Dementia Distal upper limb amyotrophy Limited shoulder movement Foot dorsiflexor weakness Steppage gait Myofibrillar myopathy Absent Achilles reflex Distal lower limb amyotrophy Shoulder girdle muscle atrophy Mitochondrial depletion



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