Scoliosis, and Arrhythmia

Low match HYALINE BODY MYOPATHY

Myosin storage myopathy, also known as hyaline body myopathy, is a congenital myopathy characterized by the accumulation of ATPase and antibody positive myosin in hyaline subsarcolemmal bodies in type I muscle fibers. The clinical features are variable, with different patients displaying proximal, scapuloperoneal, or generalized weakness and progressive or nonprogressive courses (summary by Dye et al., 2006).

HYALINE BODY MYOPATHY Is also known as myopathy, hyaline body, autosomal dominant|myopathy with lysis of type i myofibrils

• Scoliosis
• Muscle weakness
• Flexion contracture
• Skeletal muscle atrophy
• Cardiomyopathy

SOURCES: ORPHANET OMIM MENDELIAN

Low match LIPID STORAGE MYOPATHY DUE TO FLAVIN ADENINE DINUCLEOTIDE SYNTHETASE DEFICIENCY; LSMFLAD

Lipid storage myopathy due to FLAD1 deficiency is an autosomal recessive inborn error of metabolism that includes variable mitochondrial dysfunction. The phenotype is extremely heterogeneous: some patients have a severe disorder with onset in infancy and cardiac and respiratory insufficiency resulting in early death, whereas others have a milder course with onset of muscle weakness in adulthood. Some patients show significant improvement with riboflavin treatment (summary by Olsen et al., 2016).

• Generalized hypotonia
• Scoliosis
• Muscle weakness
• Feeding difficulties
• Visual impairment

SOURCES: OMIM MENDELIAN

Low match FAMILIAL MULTIPLE NEVI FLAMMEI

Familial multiple nevi flammei is a rare, genetic capillary malformation disorder characterized by dark red to purple birthmarks which manifest as flat, sharply circumscribed cutaneous lesions, typically situated in the head and neck region, in various members of a single family. The lesions grow proportionally with the individual, change in color and often thicken with age.

FAMILIAL MULTIPLE NEVI FLAMMEI Is also known as familial multiple port-wine stains

• Intellectual disability
• Seizures
• Scoliosis
• Edema
• Arrhythmia

SOURCES: ORPHANET MENDELIAN

Low match X-LINKED INTELLECTUAL DISABILITY-CARDIOMEGALY-CONGESTIVE HEART FAILURE SYNDROME

X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome is a rare X-linked syndromic intellectual disability disorder characterized by profound intellectual disability, global developmental delay with absent speech, seizures, large joint contractures, abnormal position of thumbs and middle-age onset of cardiomegaly and atrioventricular valve abnormalities, resulting in subsequent congestive heart failure. Additional features include variable facial dysmorphism (notably large ears with overfolded helix) and large testes.

• Intellectual disability
• Seizures
• Global developmental delay
• Spasticity
• Flexion contracture

SOURCES: ORPHANET OMIM MENDELIAN

Low match CAPILLARY MALFORMATIONS, CONGENITAL; CMC

Capillary malformations are a form of vascular malformation that are present from birth, tend to grow with the individual, do not regress spontaneously, and show normal rates of endothelial cell turnover. Capillary malformations are distinct from capillary hemangiomas (OMIM ), which are highly proliferative lesions that appear shortly after birth and show rapid growth, slow involution, and endothelial hypercellularity (Spring and Bentz, 2005; Legiehn and Heran, 2006).

CAPILLARY MALFORMATIONS, CONGENITAL; CMC Is also known as port-wine stain|nevi flammei, familial multiple|capillary malformations|cmal

• Intellectual disability
• Seizures
• Scoliosis
• Edema
• Dilatation

SOURCES: ORPHANET OMIM MENDELIAN

Low match NEONATAL ENCEPHALOMYOPATHY-CARDIOMYOPATHY-RESPIRATORY DISTRESS SYNDROME

Primary coenzyme Q10 deficiency-7 is an autosomal recessive disorder resulting from mitochondrial dysfunction. Most patients have onset of severe cardiac or neurologic symptoms soon after birth, usually resulting in death. Rare patients may have later onset with a more protracted course. Tissue samples from affected individuals show decreased levels of coenzyme Q10 (CoQ10) (summary by Brea-Calvo et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of primary coenzyme Q10 deficiency, see COQ10D1 (OMIM ).

NEONATAL ENCEPHALOMYOPATHY-CARDIOMYOPATHY-RESPIRATORY DISTRESS SYNDROME Is also known as coq4-related neonatal encephalomyopathy

• Seizures
• Generalized hypotonia
• Scoliosis
• Feeding difficulties
• Intrauterine growth retardation

SOURCES: ORPHANET OMIM MENDELIAN

Low match CAP MYOPATHY

Cap myopathy is a very rare congenital myopathy presenting a weakness of facial and respiratory muscles associated with craniofacial and thoracic deformities, as well as weakness of limb proximal and distal muscles. Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis.

CAP MYOPATHY Is also known as cap disease

• Generalized hypotonia
• Muscle weakness
• High palate
• Motor delay
• Myopathy

SOURCES: MESH ORPHANET MENDELIAN

Low match CRISPONI SYNDROME

Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly.

• Seizures
• Scoliosis
• Micrognathia
• Cognitive impairment
• Flexion contracture

SOURCES: ORPHANET MENDELIAN

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

• Seizures
• Generalized hypotonia
• Scoliosis
• Muscle weakness
• Flexion contracture

SOURCES: ORPHANET MESH MENDELIAN

Low 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

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

SOURCES: OMIM ORPHANET MENDELIAN