Hyperreflexia, and Limb-girdle muscular dystrophy

Miyoshi muscular dystrophy is an autosomal recessive skeletal muscle disorder characterized by onset in young adulthood of distal muscle weakness affecting the upper and lower limbs but sparing the intrinsic hand muscles. Muscle weakness and atrophy particularly affects the gastrocnemius and soleus muscles, and can later spread to involve the thigh and gluteal muscles. Patients showed impaired tiptoe standing, difficulty in climbing stairs, and difficulty walking, but usually remain ambulatory. Serum creatine kinase is increased and muscle biopsies show myopathic and dystrophic changes with necrosis (summary by Miyoshi et al., 1986). Genetic Heterogeneity of Miyoshi Muscular DystrophyMiyoshi muscular dystrophy is a genetically heterogeneous disorder: MMD2 (OMIM ) has been mapped to chromosome 10p, and MMD3 (OMIM ) is caused by mutation in the ANO5 gene (OMIM ) on chromosome 11p14.See also Welander myopathy (OMIM ), an autosomal dominant form of late-onset distal myopathy.

MIYOSHI MUSCULAR DYSTROPHY 1; MMD1 Is also known as muscular dystrophy, distal, late-onset, autosomal recessive|miyoshi myopathy

• Muscle weakness
• Skeletal muscle atrophy
• Myopathy
• Elevated serum creatine phosphokinase
• Difficulty walking

SOURCES: OMIM MENDELIAN

Autosomal recessive limb-girdle muscular dystrophy type 2G (LGMD2G) is a mild subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable onset (ranging from infancy to adolescence) of progressive proximal upper and lower limb muscle weakness and atrophy. Mild scapular winging, calf hypertrophy, and lack of respiratory and cardiac involvement are also observed.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2G Is also known as lgmd2g|limb-girdle muscular dystrophy due to telethonin deficiency|muscular dystrophy, limb-girdle, type 2g

• Skeletal muscle atrophy
• Myopathy
• Elevated serum creatine phosphokinase
• Difficulty walking
• Muscular dystrophy

SOURCES: MESH OMIM ORPHANET MENDELIAN

Proximal spinal muscular atrophy type 3 (SMA3) is a relatively mild form of proximal spinal muscular atrophy (see this term) characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.

PROXIMAL SPINAL MUSCULAR ATROPHY TYPE 3 Is also known as muscular atrophy, juvenile|sma3|spinal muscular atrophy, mild childhood and adolescent form|kugelberg-welander syndrome|sma iii|kugelberg-welander disease|sma-iii|juvenile spinal muscular atrophy|sma type 3|sma type iii|kws

• Muscle weakness
• Skeletal muscle atrophy
• Hyporeflexia
• Proximal muscle weakness
• Muscular dystrophy

SOURCES: ORPHANET OMIM MENDELIAN

Autosomal dominant limb-girdle muscular dystrophy type 1G (LGMD1G) is a mild subtype of autosomal dominant limb-girdle muscular dystrophy characterized by a typically adult onset of mild, progressive, proximal weakness of pelvic and shoulder girdle muscles and progressive, permanent finger and toes flexion limitation without flexion contractures. Normal to highly elevated creatine kinase serum levels are observed.

AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1G Is also known as lgmd1g|muscular dystrophy, limb-girdle, type 1g

• Muscle weakness
• Cataract
• Myopathy
• Hyporeflexia
• Elevated serum creatine phosphokinase

SOURCES: ORPHANET MESH OMIM MENDELIAN

The muscular dystrophy that carries the Becker eponym is similar to Duchenne muscular dystrophy in the distribution of muscle wasting and weakness, which is mainly proximal, but the course is more benign, with age of onset around 12 years; some patients have no symptoms until much later in life. Loss of ambulation also varies from adolescence onward, with death usually in the fourth or fifth decade. In some cases, as in Duchenne muscular dystrophy, a degree of mental impairment is present (Emery, 2002).As in DMD, about 5 to 10% of female carriers of this X-linked disorder show muscle weakness, and frequently enlarged calves--so-called manifesting heterozygotes. Such weakness is often asymmetric; it can develop in childhood or not become evident until adult life, and can be slowly progressive or remain static. Because weakness is essentially proximal, differentiation from limb-girdle muscular dystrophy is essential for genetic counseling. In both DMD and BMD, female carriers may develop dilated cardiomyopathy in the absence of apparent weakness (Grain et al., 2001).

MUSCULAR DYSTROPHY, BECKER TYPE; BMD Is also known as muscular dystrophy, pseudohypertrophic progressive, becker type|becker muscular dystrophy

• Muscle weakness
• Cognitive impairment
• Skeletal muscle atrophy
• Cardiomyopathy
• Myopathy

SOURCES: OMIM MENDELIAN

Distal myotilinopathy is a rare, late adult-onset myofibrillar myopathy characterized by progressive distal muscle weakness associated with peripheral neuropathy and hyporeflexia. Ambulation may be lost within a few years.

DISTAL MYOTILINOPATHY Is also known as muscular dystrophy, limb-girdle, type 1, formerly|lgmd1, formerly|lgmd1a, formerly|myopathy, myofibrillar, myotilin-related|muscular dystrophy, limb-girdle, type 1a, formerly|myotilinopathy

• Muscle weakness
• Flexion contracture
• Peripheral neuropathy
• Dysarthria
• Dysphagia

SOURCES: MESH ORPHANET OMIM MENDELIAN

Autosomal dominant limb-girdle muscular dystrophy type 1D (LGMD1D) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult-onset of slowly progressive, proximal pelvic girdle weakness, with none, or only minimal, shoulder girdle involvement, and absence of cardiac and respiratory symptoms. Mild to moderate elevated creatine kinase serum levels and gait abnormalities are frequently observed.

AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1D Is also known as lgmd1d|lgmd1e|muscular dystrophy, limb-girdle, type 1d, formerly|muscular dystrophy, limb-girdle, type 1e|lgmd1d, formerly

• Muscle weakness
• Flexion contracture
• Dysarthria
• Dysphagia
• Myopathy

SOURCES: OMIM ORPHANET MENDELIAN

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

• Generalized hypotonia
• Growth delay
• Muscle weakness
• Muscular hypotonia
• Flexion contracture

SOURCES: OMIM ORPHANET MESH MENDELIAN

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

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

SOURCES: OMIM MENDELIAN

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

• Seizures
• Global developmental delay
• Generalized hypotonia
• Scoliosis
• Muscle weakness

SOURCES: OMIM MENDELIAN