Myopathy, and Lower limb muscle weakness

Diseases related with Myopathy and Lower limb muscle weakness

In the following list you will find some of the most common rare diseases related to Myopathy and Lower limb muscle weakness that can help you solving undiagnosed cases.

Top matches:

Distal anoctaminopathy is a rare, autosomal recessive distal myopathy characterized by early adult-onset, slowly progressive, often asymmetrical, lower limb muscle weakness initially affecting the calves (with relative anterior muscle sparing) and later proximal muscle involvement, as well as highly elevated creatine kinase (CK) serum levels.

DISTAL ANOCTAMINOPATHY Is also known as miyoshi muscular dystrophy type 3|mmd3|miyoshi myopathy 3

Related symptoms:

  • Muscle weakness
  • Myopathy
  • Elevated serum creatine phosphokinase
  • Proximal muscle weakness
  • Myalgia


SOURCES: OMIM ORPHANET MENDELIAN

More info about DISTAL ANOCTAMINOPATHY

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

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MIYOSHI MUSCULAR DYSTROPHY 1; MMD1

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

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

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

Other less relevant matches:

Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by an onset in late adolescence or early adulthood of slowly progressive, proximal weakness and atrophy of shoulder and pelvic girdle muscles. Cardiac and respiratory muscles are not involved. Hypertrophy of the calf muscles and highly elevated serum creatine kinase levels are frequently observed.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2B Is also known as lgmd2b|limb-girdle muscular dystrophy due to dysferlin deficiency|muscular dystrophy, limb-girdle, type 3|lgmd3|muscular dystrophy, limb-girdle, type 2b

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Skeletal muscle atrophy
  • Fatigue
  • Abnormality of the skeletal system


SOURCES: MESH OMIM ORPHANET MENDELIAN

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

Distal myopathy with anterior tibial onset is a rare, genetic neuromuscular disease characterized by a progressive muscle weakness starting in the anterior tibial muscles, later involving lower and upper limb muscles, associated with an increased serum creatine kinase levels and absence of dysferlin on muscle biopsy. Patients become wheelchair dependent.

DISTAL MYOPATHY WITH ANTERIOR TIBIAL ONSET Is also known as distal anterior compartment myopathy

Related symptoms:

  • Myopathy
  • Elevated serum creatine phosphokinase
  • Distal muscle weakness
  • Distal amyotrophy


SOURCES: OMIM ORPHANET MENDELIAN

More info about DISTAL MYOPATHY WITH ANTERIOR TIBIAL ONSET

Axonal Charcot-Marie-Tooth disease type 2CC is an autosomal dominant peripheral neuropathy that predominantly affects the lower limbs, resulting in muscle weakness and atrophy and gait impairment. Other features include distal sensory impairment and less severe involvement of the upper limbs. The age at onset and severity are variable (summary by Rebelo et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT type 2, see CMT2A (OMIM ).

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC; CMT2CC Is also known as charcot-marie-tooth neuropathy, type 2cc

Related symptoms:

  • Muscle weakness
  • Peripheral neuropathy
  • Gait disturbance
  • Myopathy
  • Hyporeflexia


SOURCES: OMIM MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC; CMT2CC

Autosomal recessive limb-girdle muscular dystrophy type 2Y is a form of limb-girdle muscular dystrophy, presenting in the first or second decades of life, characterized by slowly progressive proximal and distal muscle weakness and atrophy. Additional manifestations include contractures of the proximal and distal interphalangeal hand joints, rigid spine, restricted pulmonary function, and mild cardiomyopathy.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2Y Is also known as autosomal recessive muscular dystrophy due to lap1b deficiency|lgmd2y|autosomal recessive muscular dystrophy due to torsin-1a-interacting protein 1 deficiency|muscular dystrophy with progressive weakness, distal contractures and rigid spine|muscular dystr

Related symptoms:

  • Muscle weakness
  • Flexion contracture
  • Myopathy
  • Elevated serum creatine phosphokinase
  • Rigidity


SOURCES: OMIM ORPHANET MENDELIAN

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

Autosomal dominant isolated mitochondrial myopathy is characterized by onset of proximal lower limb weakness and exercise intolerance in the first decade of life. The disorder is slowly progressive, with later involvement of facial muscles, muscles of the upper limbs, and distal muscles. Patients may also have respiratory compromise (summary by Heiman-Patterson et al., 1997).

Related symptoms:

  • Short stature
  • Muscle weakness
  • Myopathy
  • Elevated serum creatine phosphokinase
  • Acidosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT MITOCHONDRIAL MYOPATHY WITH EXERCISE INTOLERANCE

SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT; SPM Is also known as scapuloperoneal myopathy, fhl1-related

Related symptoms:

  • Flexion contracture
  • Skeletal muscle atrophy
  • Myopathy
  • Arrhythmia
  • Hyporeflexia


SOURCES: OMIM MENDELIAN

More info about SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT; SPM

Top 5 symptoms//phenotypes associated to Myopathy and Lower limb muscle weakness

Symptoms // Phenotype % cases
Elevated serum creatine phosphokinase Very Common - Between 80% and 100% cases
Muscle weakness Common - Between 50% and 80% cases
Muscular dystrophy Common - Between 50% and 80% cases
Proximal muscle weakness Uncommon - Between 30% and 50% cases
Distal muscle weakness Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Myopathy and Lower limb muscle weakness. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Skeletal muscle atrophy Rimmed vacuoles Difficulty walking Difficulty climbing stairs Limb muscle weakness Calf muscle hypertrophy Increased variability in muscle fiber diameter Difficulty running Waddling gait Distal amyotrophy Limb-girdle muscular dystrophy

Rare Symptoms - Less than 30% cases

Flexion contracture Muscle fiber splitting Progressive muscle weakness Proximal muscle weakness in lower limbs Hyporeflexia Increased connective tissue Distal lower limb muscle weakness Foot dorsiflexor weakness Ragged-red muscle fibers Myalgia Exercise intolerance Steppage gait Pyloric stenosis Impaired vibratory sensation Sensory axonal neuropathy EMG: neuropathic changes Upper limb muscle weakness Lower limb amyotrophy Upper limb amyotrophy Scapuloperoneal amyotrophy Rigidity Myofibrillar myopathy Mitochondrial myopathy Increased serum lactate Elbow flexion contracture Spinal rigidity Ankle contracture Increased endomysial connective tissue Short stature Scapular winging Confusion Acidosis Arrhythmia Facial palsy Lactic acidosis Neck flexor weakness Sensorimotor neuropathy Inability to walk Infantile muscular hypotonia Frequent falls Proximal muscle weakness in upper limbs Quadriceps muscle atrophy Toe walking Mildly elevated creatine phosphokinase Muscle fibrillation Muscle fiber necrosis Inflammatory myopathy Decreased/absent ankle reflexes Decreased Achilles reflex Deposits immunoreactive to beta-amyloid protein Proximal amyotrophy Distal lower limb amyotrophy Areflexia of lower limbs Proximal upper limb amyotrophy Sensory impairment Generalized hypotonia Fatigue Abnormality of the skeletal system Paralysis EMG: myopathic abnormalities Congenital muscular dystrophy Peripheral neuropathy Gait disturbance Babinski sign Pes cavus Peripheral axonal neuropathy Falls Distal sensory impairment Scapuloperoneal myopathy


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