Cardiomyopathy, and Elevated serum creatine phosphokinase

Dilated cardiomyopathy, a disorder characterized by cardiac dilation and reduced systolic function, represents an outcome of a heterogeneous group of inherited and acquired disorders. For background and phenotypic information on dilated cardiomyopathy, see CMD1A (OMIM ).

• Cardiomyopathy
• Congestive heart failure
• Elevated serum creatine phosphokinase
• Dilated cardiomyopathy
• Sudden cardiac death

SOURCES: MESH OMIM MENDELIAN

• Cataract
• Cardiomyopathy
• Congestive heart failure
• Elevated serum creatine phosphokinase
• Dilated cardiomyopathy

SOURCES: OMIM MENDELIAN

CARDIOMYOPATHY, DILATED, 3B; CMD3B Is also known as xlcm|cardiomyopathy, dilated, x-linked

• Pain
• Cardiomyopathy
• Congestive heart failure
• Elevated serum creatine phosphokinase
• Dilated cardiomyopathy

SOURCES: OMIM MENDELIAN

• Cardiomyopathy
• Myopathy
• Elevated serum creatine phosphokinase
• Myalgia
• Scarring

SOURCES: OMIM MENDELIAN

Autosomal recessive limb-girdle muscular dystrophy type 2J (LGMD2J) is a form of limb-girdle muscular dystrophy that usually has a childhood onset (but can range from the first to third decade of life) of severe progressive proximal weakness, eventually involving the distal muscles. Some patients may remain ambulatory but most are wheelchair dependant 20 years after onset.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2J Is also known as lgmd2j|muscular dystrophy, limb-girdle, type 2j

• Cardiomyopathy
• Myopathy
• Elevated serum creatine phosphokinase
• Proximal muscle weakness
• Distal muscle weakness

SOURCES: OMIM MESH ORPHANET MENDELIAN

Autosomal recessive limb-girdle muscular dystrophy type 2X is a rare subtype of autosomal recessive limb-girdle muscular dystrophy characterized by atrioventricular block resulting in repeated syncope episodes, elevated creatine kinase serum levels and adult-onset of slowly progressive proximal limb skeletal muscle weakness and atrophy. Muscular dystrophic changes observed in muscle biopsy include diameter variability, increased central nuclei, and presence of necrotic and regenerating fibers.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2X Is also known as autosomal recessive limb-girdle muscular dystrophy-cardiac arrhythmia syndrome|lgmd2x|muscular dystrophy, limb-girdle, type 2x

• Muscle weakness
• Cardiomyopathy
• Arrhythmia
• Elevated serum creatine phosphokinase
• Proximal muscle weakness

SOURCES: OMIM ORPHANET MENDELIAN

X-linked myopathy with excessive autophagy is a childhood-onset X-linked myopathy characterised by slow progression of muscle weakness and unique histopathological findings.

X-LINKED MYOPATHY WITH EXCESSIVE AUTOPHAGY Is also known as xmea|vacuolar myopathy

• Global developmental delay
• Generalized hypotonia
• Muscle weakness
• Cardiomyopathy
• Myopathy

SOURCES: OMIM ORPHANET MENDELIAN

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

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

SOURCES: OMIM MESH MENDELIAN

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

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

SOURCES: ORPHANET OMIM MENDELIAN

Late-onset distal myopathy, Markesbery-Griggs type is a rare, genetic, non-dystrophic myofibrillar myopathy disorder characterized by late-adult onset of distal and/or proximal limb muscle weakness with initial involvement of posterior lower leg muscles, medial gastrocnemius and soleus. Patients present with ankle weakness followed by weakness of finger and wrist extensors and later on of proximal muscles. Ambulation is usually preserved. Late-onset associated cardiomyopathy and/or neuropathy has been reported in a minority of cases.

LATE-ONSET DISTAL MYOPATHY, MARKESBERY-GRIGGS TYPE Is also known as zasp-related myofibrillar myopathy

• Muscle weakness
• Cardiomyopathy
• Myopathy
• Elevated serum creatine phosphokinase
• Irritability

SOURCES: OMIM MESH ORPHANET MENDELIAN