Myopathy, and Areflexia

Diseases related with Myopathy and Areflexia

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

Top matches:

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

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

Other less relevant matches:

Spheroid body myopathy is a rare form of myofibrillar myopathy characterized by predominantly proximal muscle weakness (that could be either non- or slowly progressive), associated with spheroid body inclusions (composed of myofilamentous material within individual muscle fibers) in skeletal muscle biopsy. Presentation is varied and may range from asymptomatic to severe muscle weakness that manifests with absent Achilles reflexes, gait abnormality and/or other motor incapacitations.

Related symptoms:

  • Muscle weakness
  • Tremor
  • Dysphagia
  • Myopathy
  • Abnormality of metabolism/homeostasis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SPHEROID BODY MYOPATHY

Medium match MUSCLE FILAMINOPATHY

Muscle filaminopathy is a rare myofibrillar myopathy characterized by slowly progressive, proximal skeletal muscle weakness, which is initially more prominent in lower extremities and involves upper extremities with disease progression. Patients present with difficulty climbing stairs, a waddling gait, marked winging of scapula, lower back pain, paresis of limb girdle musculature, hypo-/areflexia and/or mild facial muscle weakness in rare cases. Respiratory muscle weakness is common and cardiac anomalies (conduction blocks, tachycardia, diastolic dysfunction, left ventricular hypertrophy) have been reported in some cases.

MUSCLE FILAMINOPATHY Is also known as myopathy, myofibrillar, filamin c-related|filaminopathy, autosomal dominant

Related symptoms:

  • Muscle weakness
  • Pain
  • Respiratory insufficiency
  • Areflexia
  • Elevated serum creatine phosphokinase


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MUSCLE FILAMINOPATHY

Adenosine monophosphate (AMP) deaminase deficiency is a metabolic disorder for which two forms have been described. Lack of activity of the erythrocyte isoform of AMP deaminase has been described in subjects with low plasma uric acid levels without obvious clinical relevance and will not be described further. Myoadenylate deaminase deficiency is an inherited disorder of muscular energy metabolism with a lack of AMP deaminase activity in skeletal muscle. It is characterised by exercise-induced muscle pain, cramps and/or early fatigue.

ADENOSINE MONOPHOSPHATE DEAMINASE DEFICIENCY Is also known as ampd1 deficiency|amp deaminase deficiency|myoadenylate deaminase deficiency, myopathy due to|adenosine monophosphate deaminase-1 deficiency, myopathy due to|myoadenylate deaminase deficiency

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Pain
  • Skeletal muscle atrophy
  • Macrocephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about ADENOSINE MONOPHOSPHATE DEAMINASE DEFICIENCY

KLHL9-related early-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal limb muscle weakness and atrophy (beginning with anterior tibial muscle involvement followed by the intrinsic hand muscles) in association with reduced sensation in a stocking-glove distribution. Patients present with high stepping gait, ankle areflexia and contractures in the first to second decade of life, associated with marked ankle extensor muscle atrophy; later proximal muscle involvement is moderate and ambulation is preserved throughout the life.

Related symptoms:


SOURCES: ORPHANET MENDELIAN

More info about KLHL9-RELATED EARLY-ONSET DISTAL MYOPATHY

The Jokela type of spinal muscular atrophy (SMAJ) is an autosomal dominant lower motor neuron disorder characterized by adult-onset of muscle cramps and fasciculations affecting the proximal and distal muscles of the upper and lower limbs. The disorder is slowly progressive, resulting in weakness and mild muscle atrophy later in life (summary by Jokela et al., 2011).

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Skeletal muscle atrophy
  • Tremor
  • Gait disturbance


SOURCES: ORPHANET OMIM MENDELIAN

More info about LOWER MOTOR NEURON SYNDROME WITH LATE-ADULT ONSET

Reducing-body myopathy (RBM) is a rare myopathy characterized pathologically by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase (MAG) in the absence of substrate, alpha-glycerophosphate. The term 'reducing body' refers to the reducing activity of the inclusions to nitroblue tetrazolium (NBT) in the absence of substrate. This condition is also commonly associated with rimmed vacuoles and cytoplasmic bodies. The clinical features of RBM are variable; a severe form has onset in infancy or early childhood and results in severe disability or early death, and a less severe form has onset in late childhood or adulthood (RBMX1B ) (summary by Liewluck et al., 2007 and Shalaby et al., 2009).

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Flexion contracture
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET; RBMX1A

Scapulohumeroperoneal myopathy is an autosomal dominant muscle disorder characterized by slowly progressive muscle weakness and atrophy affecting both proximal and distal muscles of the upper and lower limbs. Onset is usually in the first decade and can be as early as infancy, although some patients do not notice symptoms until young adulthood. There is marked variability in severity (summary by Zukosky et al., 2015).

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Gait disturbance
  • Myopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROGRESSIVE SCAPULOHUMEROPERONEAL DISTAL MYOPATHY

Top 5 symptoms//phenotypes associated to Myopathy and Areflexia

Symptoms // Phenotype % cases
Elevated serum creatine phosphokinase Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Distal muscle weakness Uncommon - Between 30% and 50% cases
Skeletal muscle atrophy Uncommon - Between 30% and 50% cases
Progressive muscle weakness Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Myopathy and Areflexia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Rimmed vacuoles Hyporeflexia Gait disturbance Waddling gait Proximal muscle weakness Increased variability in muscle fiber diameter Generalized hypotonia Myalgia Difficulty climbing stairs Distal amyotrophy Difficulty walking

Rare Symptoms - Less than 30% cases

Muscle cramps Tremor Respiratory insufficiency Pain Foot dorsiflexor weakness Neck flexor weakness Calf muscle hypertrophy Proximal amyotrophy Limb-girdle muscular dystrophy Myofibrillar myopathy Nemaline bodies Increased connective tissue Scoliosis Centrally nucleated skeletal muscle fibers Muscular dystrophy Babinski sign Frontotemporal dementia Mitochondrial myopathy Spinal muscular atrophy Amyotrophic lateral sclerosis Hammertoe Pes cavus Ragged-red muscle fibers Intention tremor Sensory impairment Distal sensory impairment Pes planus Dementia Fasciculations Muscle fibrillation Bulbar signs Neck muscle weakness Hand muscle atrophy Muscle fiber atrophy Achilles tendon contracture Reduced tendon reflexes Scapular winging Hyperlordosis Facial palsy Progressive proximal muscle weakness Spinal rigidity Ataxia Gowers sign Poor head control Respiratory insufficiency due to muscle weakness Frequent falls Falls Rigidity Respiratory failure Motor delay Flexion contracture Increased serum lactate Elevated creatine kinase after exercise Distal lower limb muscle weakness Toe walking Abnormality of metabolism/homeostasis Dysphagia Proximal upper limb amyotrophy Proximal muscle weakness in upper limbs Proximal muscle weakness in lower limbs Areflexia of lower limbs Distal lower limb amyotrophy Nasal speech Difficulty running Mildly elevated creatine phosphokinase Deposits immunoreactive to beta-amyloid protein Decreased Achilles reflex Decreased/absent ankle reflexes Inflammatory myopathy Muscle fiber necrosis Broad-based gait Absent Achilles reflex Exercise-induced muscle fatigue Stroke Increased muscle fatiguability Exercise-induced myalgia Chronic fatigue Rhabdomyolysis Easy fatigability Infantile muscular hypotonia Limb muscle weakness Neonatal hypotonia Lower limb muscle weakness Fatigue Macrocephaly Muscle fiber cytoplasmatic inclusion bodies Abnormal peripheral nervous system morphology Muscle fiber splitting Low back pain Back pain Wrist drop


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